新疆维吾尔族HLA-Cw基因座遗传多态性调查 The Study of HLA-Cw Polymorphism in Uygur Population

采用序列特异性寡核苷酸探针杂交技术（PCR-SSOP）对146位新疆维吾尔族无关个体HLA-Cw基因座进行基因分型,研究该民族HLA-Cw基因座遗传多态性,建立新疆维吾尔族HLA-Cw基因频率数据库。检出18种等位基因,基因频率分布在0.0069~02460,其中HLA-Cw*04、07、08、14基因频率比较高,基因频率分别为02460、0.1151、0.1010、0.1202,共占新疆维吾尔族可检出等位基因的58.23%,PCR-SSOP分型技术使新疆维吾尔族HLA-Cw基因座空白基因频率降至0.0064。经χ2检验,基因型分布符合Hardy-Weinberg平衡定律。建立民族HLA-Cw基因座基因频率数据库,为临床器官移植配型、人类学、法医学提供重要的群体遗传学资料。 Abstract:The HLA-Cw loci polymorphism in Uygur population was investigated using the PCR- sequence specific oligonucleotide probe (SSOP) method,and the genetic database on the distribution of gene frequency of the HLA-Cw loci was established.From 146 individuals of Uygur population,18 HLA-Cw alleles were detected.The gene frequency was from 0.0069 to 0.2460.The four most common alleles were HLA-Cw*04(24.60%)、07(11.51%)、08(1010%)、14(12.02%),and they covered 58.23% of total alleles detected from Uygur population.We have made a survey of HLA-Cw alleles frequencies in a Uygur population,with blank frequency being lowered to 0.0064.The distribution of genotype frequencies met the law of Hardy-Weinberg equilibrium by hi-square test.The frequency data can be used in forensic and paternity tests to estimate the frequency of a DNA profile in the Uygur population,transplant matching and anthropology.     

Association of HLA classⅠand classⅡgenes with severe acute respiratory syndrome in the northern Chinese population

Severe acute respiratory syndrome (SARS) was a major epidemic at the beginning of the 21^st century. This highly infectious disease is caused by a novel coronavirus (SARS-CoV), whose immune reaction is still not completely understood. This study described the genetic patterns of HLA-A, -B, and -DRB1 loci in patients from Beijing who survived SARS, and examined whether an association between HLA genes and susceptibility/resistance to SARS exists. A total of 148 Chinese Han SARS survivors were recruited to donate convalescent plasma in 2003. HLA low-resolution genotyping was carried out using PCR-SSP. Allele frequencies were compared with published frequencies of HLA alleles from 11 755 unrelated northern Chinese Han bone marrow donors by Fisher''s exact test. In this cohort, 13, 25 and 13 alleles were observed at HLA-A, -B, and -DRB1 loci respectively. Fisher''s exact tests revealed four alleles (A*26, DRB1*04, DRB1*09, and DRB1*16) that showed a nominal association significance with the SARS virus (P<0.05), yet none of these associations remained significant after correction. Our study suggests that HLA polymorphisms were unlikely to have contributed significantly to either the susceptibility or resistance to the SARS-Cov infection in patients who survived SARS in the Northern Chinese population, thus leaving an open question for future studies into a possible association HLA class Ⅰ and class Ⅱ genes with SARS in patients who were unable to survive the infection.     

广州地区106例汉族人群MICA和MICB微卫星基因座 单体型研究

利用聚合酶链反应和荧光（6－FAM）自动化检测技术对广东地区汉族106例无亲缘关系样本进行MICA基因外显子5和MICB基因内含子1微卫星基因座多态性及其单体型分布调查。根据群体资料估算两者间的单体型频率、连锁不平衡参数、相对连锁不平衡参数。结果显示,广州地区汉族人群MICA和MICB微卫星基因座基因型分布符合Hardy-Weinberg平衡法则,共检出MICA微卫星基因座 5个等位基因, MICB微卫星基因座14个等位基因。其中MICA A5基因频率最高（0.2877）,A4基因频率最低（0.1321）。MICB CA14等位基因频率最高（0.3255）,CA19、CA28等位基因频率最低（0.0047）,未检出CA27。21种MICA－MICB单体型频率大于1%(连锁不平衡参数>0), 其中单体型A5－CA14 (16.73%), A5.1－CA18 (8.75%), A4－CA26(3.76%),A9－CA15(3.66%)和A6－CA21(2.61%)为强连锁常见单体型（χ2>3.84, P<0.05）。广州地区汉族人群MICA和MICB微卫星基因座多态性和单体型分布有其自身特点,MICA和MICB微卫星基因座适合做为遗传标志,用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。Abstract: This study is to investigate genetic polymorphisms and haplotypes of microsatellite locus in the exon 5 of the MICA gene and intron 1 of the MICB gene based on 106 samples of Guangzhou Han Population by polymerase chain reaction and fluorescent technique (6-FAM). The corresponding haplotype frequencies, linkage disequilibria values and relative linkage disequilibria values were estimated based on population data. The results show that the genotype distributions of MICA and MICB microsatellite meet Hardy-Weinberg equilibrium in Guangdong Han population. In total, 5 alleles of MICA microsatellite locus and 14 alleles of MICB microsatellite locus were observed. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). MICB CA14 was the most common allele (0.3255), and CA19 and CA28 were the least popular ones (0.0047). CA27 was not observed. Twenty-one kinds of MICA-MICB haplotypes occurred at frequencies of more than 1% (linkage disequilibria value>0). The common MICA-MICB haplotypes were A5-CA14（16.73％）, A5.1- CA18 (8.75%), A4- CA26(3.76%),A9-CA15(3.66%) and A6-CA21(2.61%)（χ2>3.84, P<0.05）, and they were strong linkage disequilibria. The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.     

广州地区106例汉族人群MICA和MICB微卫星基因座 单体型研究 The Study on the Haplotype of MICA and MICB Microsatellite Locus In Guangzhou Han Population

利用聚合酶链反应和荧光（6－FAM）自动化检测技术对广东地区汉族106例无亲缘关系样本进行MICA基因外显子5和MICB基因内含子1微卫星基因座多态性及其单体型分布调查。根据群体资料估算两者间的单体型频率、连锁不平衡参数、相对连锁不平衡参数。结果显示，广州地区汉族人群MICA和MICB微卫星基因座基因型分布符合Hardy-Weinberg平衡法则，共检出MICA微卫星基因座 5个等位基因， MICB微卫星基因座14个等位基因。其中MICA A5基因频率最高（0.2877），A4基因频率最低（0.1321）。MICB CA14等位基因频率最高（0.3255），CA19、CA28等位基因频率最低（0.0047），未检出CA27。21种MICA－MICB单体型频率大于1%(连锁不平衡参数>0), 其中单体型A5－CA14 (16.73%), A5.1－CA18 (8.75%), A4－CA26(3.76%)，A9－CA15(3.66%)和A6－CA21(2.61%)为强连锁常见单体型（χ2>3.84, P<0.05）。广州地区汉族人群MICA和MICB微卫星基因座多态性和单体型分布有其自身特点，MICA和MICB微卫星基因座适合做为遗传标志，用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。Abstract: This study is to investigate genetic polymorphisms and haplotypes of microsatellite locus in the exon 5 of the MICA gene and intron 1 of the MICB gene based on 106 samples of Guangzhou Han Population by polymerase chain reaction and fluorescent technique (6-FAM). The corresponding haplotype frequencies, linkage disequilibria values and relative linkage disequilibria values were estimated based on population data. The results show that the genotype distributions of MICA and MICB microsatellite meet Hardy-Weinberg equilibrium in Guangdong Han population. In total, 5 alleles of MICA microsatellite locus and 14 alleles of MICB microsatellite locus were observed. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). MICB CA14 was the most common allele (0.3255), and CA19 and CA28 were the least popular ones (0.0047). CA27 was not observed. Twenty-one kinds of MICA-MICB haplotypes occurred at frequencies of more than 1% (linkage disequilibria value>0). The common MICA-MICB haplotypes were A5-CA14（16.73％）, A5.1- CA18 (8.75%), A4- CA26(3.76%)，A9-CA15(3.66%) and A6-CA21(2.61%)（χ2>3.84, P<0.05）, and they were strong linkage disequilibria. The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.     

CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disease, highly variable and multisystemic, which is caused by the expansion of a CTG repeat located in the 3′ untranslated region of the DMPK gene. Normal alleles show a copy number of 5–37 repeats on normal chromosomes, amplified to 50–3000 copies on DM chromosomes. The trinucleotide repeat shows a trimodal allele distribution in the majority of the examined population. The first class includes alleles carrying (CTG)₅, the second class, alleles in the range 7–18 repeats, and the third class, alleles (CTG)_{≥ 19}. The frequency of this third class is directly related to the prevalence of DM in different populations, suggesting that normal large-sized alleles predispose toward DM. We studied CTG repeat allele distribution and Alu insertion and/or deletion polymorphism at the myotonic dystrophy locus in two major Ethiopian populations, the Amhara and Oromo. CTG allele distribution and haplotype analysis on a total of 224 normal chromosomes showed significant differences between the two ethnic groups. These differences have a bearing on the out-of-Africa hypothesis for the origin of the DM mutation. In addition, (CTG)_{≥ 19} alleles were exclusively detected in the Amhara population, confirming the predisposing role of these alleles compared with the DM expansion-mutation. Electronic Publication     

Mayor histocompatibility complex class Ⅱ (HLA-DR) is associated with morphea and systemic sclerosis patients

Morphea is a disorder limited to the skin, characterized by a stable oval plaque with a glossy plane surface that feels indurated on palpation. In contrast, systemic sclerosis is additionally characterized by disseminate cutaneous engrossment, sclerodactyly, the presence of Raynaud''s phenomenon, and internal organ involvement. Human leukocyte antigen (HLA)-DR4 class Ⅱ alleles are associated with morphea in Caucasians, whereas, HLA-DR4 presents as high frequency in Amerindians, besides it was associated with autoimmune disease. The aim of this study was to determine HLA-DR alleles in Mexican patients with morphea. This study recruited 24 morphea patients, whose HLA alleles frequencies were compared with HLA alleles frequencies presented in 22 systemic sclerosis patients and 99 ethnically matched healthy controls. The HLA-DRβ1 locus was genotyped based on the hybridization technique. HLA-DR4 and DR8 frequencies showed increases in morphea patients compared with healthy controls, whereas HLA-DR4 exhibited a statistical association with morphea when allele frequencies were compared with systemic sclerosis patients. Thus, HLA-DRβ1 associations varied in morphea and systemic sclerosis, suggesting the participation of different immunological molecular mechanisms.     

应用SSP-PCR/SSO方法进行中国辽宁汉族人HLA-DRB1基因的遗传多态性研究

对159名中国辽宁汉族个体的基因组DNA进行分析,共检出42种等位基因,其中以DRB1*09012(12.8%)、*0701(10.7%)、*1501(10.4%) 最为常见,其次为DRB1*1201(7.9%)、*1202(7.5%)、*1101(6.6%)、*0301(5.0%)。并发现辽宁汉族人DRB1等位基因频率与白种人间存在明显差异,揭示不同人种有其自己的主要等位基因。同时对本技术在HLA-DRB1分型应用中的优点进行了讨论。 Abstract　HLA-DRB1 alleles of 159 Chinese donors from Liaoning Han population were determined by using a set of 23 sequence specific oligonucleotide probes directed to various DRB1 alleles. The samples were first amplified and divided into 8 groups by allele/group specific primers. The SSOs enable us to identify 58 different DRB1subtypes. 42 alleles were detected in the study of this population. Among them, the DRB1*09012(12.8%), *0701(10.7%), *1501(10.4%), *1201(7.9%), *1202(7.5%), *1101(6.6%), *0301(5.0%) are the most frequent. The significant difference was found in Chinese northern Han population by comparing the gene frequencies in Caucasoid samples, suggesting that there were principal DRB1 alleles in different races.     

Development and Characterization of 15 Polymorphic Micro satellite Markers for a Highly Adaptive and Wide-range Frog （Microhyla fissipes）

In order to analyze population genetic structure at multiple spatial scales, microsatellite loci were developed for the ornamented pygmy flog （Microhylafissipes）, and 15 polymorphic microsatellite loci were successfully screened from 105 individuals, of which 82 from four populations distributed in the Sichuan Basin and 23 from the Sangzhi population in western Hunan. Five loci were found to deviate significantly from Hardy-Weinberg equilibrium in one to three popu lations, probably due to small sample size or null alleles. The average number of alleles in all loci was 8.5, ranging from 4 to 13, and the observed and expected heterozygosity ranged from 0.26 to 0.90 and 0.63 to 0.90, respectively. The Sangzhi population and the remaining four populations can be clearly separated using Bayesian clustering methods, showing that the genetic structure of M. fissipes was probably affected by the topography, especially mountain barriers. These polymorphic microsatellite loci could be used for further study on the landscape genetics of this highly adaptive and widely distributed species.     

中国维吾尔族人群MSY1(DYF155S1)基因座多态性及其结构特点

应用荧光标记MVR-PCR、Amp-FLP与DNA序列分析技术等检测106例中国维吾尔族人群无关男性个体血纱样品,揭示了中国维吾尔族人群Y特异的小卫星MSY1 (DYF155S1)基因座5′和3′端多态性及其基因结构特点。DYF155S1基因座的多态性表现为3个方面：（1）长度多态性;（2）5′端多态性;（3）3′端多态性。106例无关个体共检出37个不同长度的片段,5′端检出68个类型,3′端检出23个类型。综合这3方面多态性,106例个体间没有相同,其基因多样性（h）超过0.9999。DNA序列分析发现该基因座5′端表现有7种模块结构,3′端有2种模块结构。DYF155S2片段缺失率约为4.7%。MVR-PCR、Amp-FLP与DNA序列分析技术结合起来可以更充分地揭示人群Y染色体特异的小卫星MSY1（DYF155S1）基因座多态性,并提出命名方式,从而为人类遗传学及法医学研究提供了有用的方法和基础资料。 Abstract:The study is to reveal the diversity and gene structure of 5′ and 3′ end of DYF155S1 locus in Y-chromosome minisatellite among Chinese Uygur population.Fluorescent MVR-PCR（minisatellite variant repeat by PCR）,Amp-FLP(Amplified fragment length polymorphism) and DNA sequencing methods were used repectively to detect 106 unrelated males among Chinese Uygur population.The polymorphisms of DYF155S1 locus could be revealed in three aspects:(1) polymorphic length:the sizes of amplified fragments ranged from 1405 to 2505bp.There are 37 types found among the 106 unrelated males.(2) polymorphism at 5′ end of DYF155S1 locus,68 types found among the 106 unrelated males.(3) polymorphism at 3′ end of DYF155S1 locus,23 types found among the 106 unrelated males.In combination of these three aspects of polymorphism,none of the 106 unrelated males tested had the same allele,and the gene diversity(h) was over 0.9999.Seven and two types of modular structure were founded in the 5′ and 3′ end of DYF155S1 locus,respectively,by DNA sequencing.The alleles at DYF155S2 locus showed yes/no dimorphism and the rate of deletion was 4.7%.The polymorphisms of DYF155S1 locus were fully revealed by using combination of MVR-PCR, Amp-FLP and DNA sequencing methods, and we suggested the nomenclature for alleles of MVR loci.These methods are useful tools and provide basic data for the study of human genetics and forensic medicine.     

A survey of phenotype distribution of subgroup A2, blood groups MNS, P, and Kell in the Kazak nationality living in northern Xinjiang of China

The research was undertaken to study the phenotypic polymorphisms of the subgroup A2, blood groups MNS, P, and Kell in the Kazakh population in northern Xinjiang, China and establish data on rare blood group antigens in the Kazakh population, in order to provide references for clinical blood transfusion safety and prevention of hemolytic disease of the new born. In this study, 6,862 unrelated Kazakh individuals in northern Xinjiang were randomly selected, and their blood samples were collected for serological testing. The antigens of A, B, A1, M, N, P1 and K were detected by serological saline tube method, and the antigens of S, s, and k were detected by the microcolumn gel antiglobulin card method. The results were as follows: ① The detection rates of subgroup A2 in group A and group AB were 7.08% and 21.79%, respectively; ② The allele frequencies of the blood groups MNS, P and Kell were M=0.5668, N=0.4332, S=0.1860, s= 0.8140, P1=0.2848, P2=0.7152, K1=0.0096, K2=0.9904. The observed values and expected values of frequency distribution of genotypes were compared by χ² test, which conformed to the Hardy-Weinberg genetic law (P>0.05); ③ Fourteen cases of S^-s^- rare phenotype were detected in MNS blood group system, with a frequency of 1.16%; ④ The frequency of K antigen in the Kell blood group system was 1.92%. One case of rare KK homozygote was detected, with a frequency of 0.034%. Our study suggested that the distribution of gene frequency of subgroup A2, blood groups MNS, P and Kell in the Kazakh population in northern Xinjiang has its own characteristics, and their blood group MNS has unique genotypes. The positive rate of K antigen of blood group Kell in the Kazakh population was significantly higher than Chinese Han population.     

青海藏族HLA II类基因多态性的研究

用PCR-RFLP的技术进一步研究了青海藏族HLA-DPB1的多态性。在19个HLA-DPB1 的等位基因中,共检出18个等位基因。其中,*0501的频率最高（AF=38.0%）;其次为*0201（AF=20.0%）;未检出*1601。在HLA-DPB1各等位基因的分布上,藏族与中国南方汉族、中国北方汉族等无明显差异,而与高加索人及尼格罗人的差异则较为显著。综合隶属于三大人种11个群体中的HLA-DQA1、-DQB1和-DPB1基因座各等位基因的分布频率,用UPGMA方法构建了分子系统树, 实验结果进一步证实汉藏同源说。 Abstract:Following the study of the polymorphism of the HLA-DQA1and -DQB1in Tibetans of Qinghai Province, the polymorphism of the HLA-DPB1was investigated by the same technique―PCR-RFLP. Among the 19 detectable alleles of HLA-DPB1gene, 18 alleles were detected. The allele *0501 was the most frequent one (AF=38.0%); the allele *0201 (AF=20.0%）was the second one; and *1601 was not found by this technique. Compared with that of Southern Han and Northern Han nationality in China, the distribution of the alleles showed little difference; while compared with that of the Caucasoid and Negroid, it showed significant difference. The result of this report confirmed once more that the Tibetan and Han nationalities came from the same ancestors. Based on the allele frequencies of the three loci within HLAclass II region-HLA-DQA1、-DQB1and -DPB1from 11 groups among three main races in the world, a molecular phylogenetic tree was constructed with the method UPGMA.     

中国傣族、景颇族人群中与艾滋病相关的CCR5△32、CCR2b-64I、SDF1-3′A等位基因多态性分布

为了调查HIV-1感染相关的等位基因CCR5△32、CCR2b-64I、SDF1-3′A在我国云南省德宏州傣族景颇族人群中的频率和多态性分布,此课题以101例傣族和113例景颇族人群为研究对象,应用PCR、PCR-RFLP(聚合酶链反应-限制性片段长度多态性)分析方法进行检测,计算突变基因频率;并对其群体分布、性别分布进行统计学分析。结果表明,中国傣族景颇族人群中未发现CCR5△32等位基因突变;傣族CCR2b-64I、SDF1-3′A基因突变频率分别为0.2130和0.2030,景颇族CCR2b-64I和SDF1-3′A基因突变频率分别为0.1637和0.1770;与中国汉族人群相比较,傣族和景颇族中SDF1-3′A突变频率较低（P值分别为0.0322和0.0021）;两个民族的CCR2b-64I和SDF1-3′A等位基因群体分布符合Hardy-Weinberg平衡,在性别之间分布无显著差异。中国傣族景颇族人群的CCR2b-64I等位基因的突变频率与汉族人相似,SDF1-3′A等位基因的突变频率比汉族人低,此两种突变基因在艾滋病发病过程中的影响值得进一步研究。由于未发现CCR5△32基因突变,中国傣族景颇族人群对HIV-1感染可能有较大的遗传易感性。 Abstract:The purpose of the work is to investigate the frequencies and polymorphisms of HIV-1 resistant CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chinese Dai and Chingpaw populations.Whole blood samples from 101 Dai subjects and 113 Chingpaw were collected randomly and their genomic DNA were extracted with QIAgen Blood Kits.Allelic frequencies were identified by PCR-RFLP analysis.Allelic polymorphisms in Dai population or Chingpaw population and both sexes in the samples were analyzed by χ2 test.The frequencies of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Dai population were 0.0000,0.2130,0.2030,respectively;The frequencies of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chingpaw population were 0.000,0.1637,0.1770,respectively.Distributions of the CCR2b-64I,SDF1-3′A alleles among the both populations were in accordance with Hardy-Weinberg equilibrium.No statistical difference was found in the allelic frequencies of both CCR2b-64I and SDF1-3′A between male and female individuals.The frequencies of CCR5delta32,CCR2b-64I alleles in Chinese Dai and Chingpaw populations are similar to that in Chinese Han population,while the frequency of SDF1-3′A allele in Chinese Dai and Chingpaw populations are lower in contrast to that in Chinese Han population.The genotyping and polymorphism of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chinese Dai and Chingpaw populations of Yunnan Province are the first time studied in China.The significance of the three mutant alleles conferring genetic resistance to HIV-1 and AIDS progression remains to be clarified.     

中国傣族、景颇族人群中与艾滋病相关的CCR5△32、CCR2b-64I、SDF1-3′A等位基因多态性分布

为了调查HIV-1感染相关的等位基因CCR5△32、CCR2b-64I、SDF1-3′A在我国云南省德宏州傣族景颇族人群中的频率和多态性分布,此课题以101例傣族和113例景颇族人群为研究对象,应用PCR、PCR-RFLP(聚合酶链反应-限制性片段长度多态性)分析方法进行检测,计算突变基因频率;并对其群体分布、性别分布进行统计学分析。结果表明,中国傣族景颇族人群中未发现CCR5△32等位基因突变;傣族CCR2b-64I、SDF1-3′A基因突变频率分别为0.2130和0.2030,景颇族CCR2b-64I和SDF1-3′A基因突变频率分别为0.1637和0.1770;与中国汉族人群相比较,傣族和景颇族中SDF1-3′A突变频率较低（P值分别为0.0322和0.0021）;两个民族的CCR2b-64I和SDF1-3′A等位基因群体分布符合Hardy-Weinberg平衡,在性别之间分布无显著差异。中国傣族景颇族人群的CCR2b-64I等位基因的突变频率与汉族人相似,SDF1-3′A等位基因的突变频率比汉族人低,此两种突变基因在艾滋病发病过程中的影响值得进一步研究。由于未发现CCR5△32基因突变,中国傣族景颇族人群对HIV-1感染可能有较大的遗传易感性。 Abstract:The purpose of the work is to investigate the frequencies and polymorphisms of HIV-1 resistant CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chinese Dai and Chingpaw populations.Whole blood samples from 101 Dai subjects and 113 Chingpaw were collected randomly and their genomic DNA were extracted with QIAgen Blood Kits.Allelic frequencies were identified by PCR-RFLP analysis.Allelic polymorphisms in Dai population or Chingpaw population and both sexes in the samples were analyzed by χ2 test.The frequencies of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Dai population were 0.0000,0.2130,0.2030,respectively;The frequencies of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chingpaw population were 0.000,0.1637,0.1770,respectively.Distributions of the CCR2b-64I,SDF1-3′A alleles among the both populations were in accordance with Hardy-Weinberg equilibrium.No statistical difference was found in the allelic frequencies of both CCR2b-64I and SDF1-3′A between male and female individuals.The frequencies of CCR5delta32,CCR2b-64I alleles in Chinese Dai and Chingpaw populations are similar to that in Chinese Han population,while the frequency of SDF1-3′A allele in Chinese Dai and Chingpaw populations are lower in contrast to that in Chinese Han population.The genotyping and polymorphism of CCR5delta32,CCR2b-64I,SDF1-3′A alleles in Chinese Dai and Chingpaw populations of Yunnan Province are the first time studied in China.The significance of the three mutant alleles conferring genetic resistance to HIV-1 and AIDS progression remains to be clarified.     

中国南方汉族群体MPSI型Kpn I酶切位点的遗传多态性

为研究中国汉族群体IDUA 基因Kpn I 酶切位点的遗传多态性以及该位点等位基因片段传递的规律, 采用PCR-RFLP技术, 对162例无血缘关系的健康中国汉人的324条 染色体进行检测,另又对5个家系16位成员进行同样的检测,然后用χ2检验进行统计学处理。结果表明,等位基因A1 频率为0.17,等位基因A2 频率为0.83,杂合率为29%;A1 、A2 的传递规律与理论上预计的完全符合。认为中国汉族群体IDUA 基因 Kpn I 酶切位点也具有遗传多态性, 并且与国外报道的无显著性差异;A1、A2 在世代中的传递完全符合孟德尔遗传规律。 Abstract:To investigate the genetic polymorphism of the Kpn I site in the α-L-iduronidase(IDUA) gene from a Han population in southern China and to study the mode of transmission of alleles, PCR-RFLP was used to analyze 324 chromosomes from 162 Chinese unrelated healthy Han individuals, and the analysis of the genotypes of 16 members in five families. To compare the frequencies and heterzygosity between Chinese Han population and Caucasians in Western by using χ2test. The frequency of allele 1 (450bp) was 0.17,allele 2 (390 plus 60 bp) 0.83, the heterozygosity was 29%.The genotypes of each member of all families detected was completely agreement with the theorical assessment. The locus of Kpn I in the IDUAgene from Han population has polymorphism. There is no significant difference between Chinese Han population and Caucasians in Western countries. The transmission of alleles was agreement with the Mendelian genetic law.     

Development of Oryza rufipogon and O. sativa Introgression Lines and Assessment for Yield-related Quantitative Trait Loci

Introgression lines population was effectively used in mapping quantitative trait loci （QTLs）, identifying favorable genes, discovering hidden genetic variation, evaluating the action or interaction of QTLs in multiple conditions and providing the favorable experimental materials for plant breeding and genetic research. In this study, an advanced backcross and consecutive selfing strategy was used to develop introgression lines （ILs）, which derived from an accession of Oryza rufipogon Griff. collected from Yuanjiang County, Yunnan Province of China, as the donor, and an elite indica cultivar Teqing （O. sativa L.）, as the recipient. Introgression segments from O. rufipogon were screened using 179 polymorphic simple sequence repeats （SSR） markers in the genome of each IL. Introgressed segments carried by the introgression lines population contained 120 ILs covering the whole O. rufipogon genome. The mean number of homozygous O. rufipogon segments per introgression line was about 3.88. The average length of introgressed segments was approximate 25.5 cM, and about 20.8% of these segments had sizes less than 10 cM. The genome of each IL harbored the chromosomal fragments of O. rufipogon ranging from 0.54% to 23.7%, with an overall average of 5.79%. At each locus, the ratio of substitution of O. rufipogon alleles had a range of 1.67-9.33, with an average of 5.50. A wide range of alterations in morphological and yield-related traits were also found in the introgression lines population. Using single-point analysis, a total of 37 putative QTLs for yield and yield components were detected at two sites with 7%-20% explaining the phenotypic variance. Nineteen QTLs （51.4%） were detected at both sites, and the alleles from O. rufipogon at fifteen loci （40.5%） improved the yield and yield components in the Teqing background. These O. rufipogon-O, sativa introgression lines will serve as genetic materials for identifying and using favorable genes from common wild rice.     

犬MC1R基因T105A基因座多态性及 与毛色性状相关性的研究The

为了检测犬MC1R基因T105A基因座的多态性,并分析该多态性与犬毛色表型的相关性,抽取111只外科手术学实验用杂种犬血液并提取DNA,记录毛色表型。采用PCR-RFLP技术,对MC1R基因T105A基因座进行基因多态性分析,并对该基因座DNA进行克隆测序;用二元变量相关分析的统计学方法分析基因座多态性与毛色性状之间的相关性。经PCR-RFLP分析结果表明,T105A基因座序列具有多态性,表现为A、B二个等位基因和AA、AB及BB 3种基因型。A、B等位基因频率分别为72.97%和27.03%,基因杂合度（H）为0.39。基因型AA频率为55.86%,BB为9.91%,AB为34.23%。对T105A多态性片段DNA克隆测序后发现,MC1R基因在编码第105位氨基酸的密码子第一个碱基存在由G到A的单碱基突变,该突变导致第105位氨基酸发生由丙氨酸向苏氨酸的改变。统计分析结果表明MC1R基因T105A基因座的多态性与毛色性状不存在显著的相关性,这可能是由于外科手术学实验用犬是杂种犬,其遗传背景不同所致,尚须在纯种犬群体中进一步研究MC1R基因对毛色的影响。 Abstract: In order to detect the polymorphism of T105A in MC1R gene in dogs and to analyze the relationship between the genetic polymorphisms and phenotypes of dog coat color, the blood samples of 111 cross-breed dogs were taken and their genomic DNAs were extracted. The phenotypes of dog coat color were recorded. The T105A locus of MC1R gene in the canine was detected through the technology of PCR-RFLP. Furthermore, the polymorphic fragments at T105A were sequenced. The relationships between the polymorphism of T105A and coat color trait were analyzed by the statistical methods of bivarate correlation analysis. By the method of PCR-RFLP, the T105A polymorphism was found with two alleles A and B and three genotypes AA, AB and BB. The frequencies of two alleles were 72.97% and 27.03%, respectively. The heterozygosity of T105A locus was 0.39. The frequencies of three genotypes were 55.86%, 34.23% and 9.91%, respectively. According to the results of sequencing, one base change from G to A at the position 105 was found at T105A locus and it altered amino acid at the position 105 from alanine to threonine. According to the statistical analysis, no significant association between the polymorphism of MC1R gene and the coat color was found and the result may be due to the differences of genetic background. Further research on MC1R gene should be done in pure breed dogs.     

中国汉族人群原纤维蛋白-1基因(FBN1)第27内含子G/A多态性

采用PCR-ASO方法, 对日本筑波大学101名中国汉族留学人员的DNA样品进行了原纤维蛋白-1基因(FBN1)第27内含子G/A多态性测定。结果发现,A等位基因频率为0.5396,G等位基因频率为0.4604。与Tynan等人报道的数据(A和G等位基因的频率分别为0.1675和0.8325)相比,有非常显著差异(P<0 .01),提示两样本间有不同的遗传背景。 Abstract:The G/A polymorphisms in intron 27 of fibrillin-1 gene in 101 Chinese Hans who were studying and working in University of Tsukuba,Japan were analyzed with PCR-ASO method.The frequencies of A and G alleles,were 0.5396 and 0.4604 respectively.In a population sample reported by Tynan the frequency of A allele was 0.1675 that of G allele was 0.8325.The distribution of G/A polymorphism was significantly different between the two population sample(P<0.01),suggesting different genetic backgrounds.     

Analysis of genetic diversity in the endangered Hucho taimen from China

Hucho taimen are listed as endangered in China. The population size has declined recently, prompting an increase in the level of listing from grade three in 2002 to grade five in 2006. We analyzed the genetic diversity of wild populations using 17 microsatellite markers to establish a scientific basis for conservation of this species. We collected tissue samples from four populations in the Heilongjiang River basin: Huma River (HM), Hutou (HT), Haiqing (HQ), and Zhuaji (ZJ). A total of 21 loci were amplified, 18 of which were polymorphic. The number of alleles per locus ranged from 2 to 9 (mean: 4.1905). There were 13 highly polymorphic loci and 5 moderately polymorphic loci. Analysis of five genetic diversity parameters (Na, Ne, Ho, He, and PIC) suggested moderate levels of diversity within the populations. The populations were ranked HT > HQ > ZJ > HM, but the differences in diversity were not statistically significant (P > 0.05). A comparison of variation among all four populations suggested Hardy–Weinberg disequilibrium at 20% of the loci. Genetic differentiation (Fst) was 0.0644 and the gene flow among populations was estimated at 3.36 individuals per generation. The majority of diversity (93.88%) occurred among individuals within a population. In contrast, relatively little (6.12%) of the genetic diversity was distributed between the populations. An analysis of genetic differentiation and genetic distance between pairs of populations revealed that both parameters were higher in comparisons of the HM population to the HT, HQ, and ZJ populations than among the three latter populations. This suggests that the HM population has a distinct genetic structure. We hypothesize that habitat degradation and excessive fishing, not low genetic diversity, has caused the decline in H. taimen populations. However, this species should be protected from further declines in genetic diversity.     

Analysis of genetic diversity in the endangered Hucho taimen from China

Hucho taimen are listed as endangered in China. The population size has declined recently, prompting an increase in the level of listing from grade three in 2002 to grade five in 2006. We analyzed the genetic diversity of wild populations using 17 microsatellite markers to establish a scientific basis for conservation of this species. We collected tissue samples from four populations in the Heilongjiang River basin: Huma River (HM), Hutou (HT), Haiqing (HQ), and Zhuaji (ZJ). A total of 21 loci were amplified, 18 of which were polymorphic. The number of alleles per locus ranged from 2 to 9 (mean: 4.1905). There were 13 highly polymorphic loci and 5 moderately polymorphic loci. Analysis of five genetic diversity parameters (Na, Ne, Ho, He, and PIC) suggested moderate levels of diversity within the populations. The populations were ranked HT > HQ > ZJ > HM, but the differences in diversity were not statistically significant (P > 0.05). A comparison of variation among all four populations suggested Hardy–Weinberg disequilibrium at 20% of the loci. Genetic differentiation (Fst) was 0.0644 and the gene flow among populations was estimated at 3.36 individuals per generation. The majority of diversity (93.88%) occurred among individuals within a population. In contrast, relatively little (6.12%) of the genetic diversity was distributed between the populations. An analysis of genetic differentiation and genetic distance between pairs of populations revealed that both parameters were higher in comparisons of the HM population to the HT, HQ, and ZJ populations than among the three latter populations. This suggests that the HM population has a distinct genetic structure. We hypothesize that habitat degradation and excessive fishing, not low genetic diversity, has caused the decline in H. taimen populations. However, this species should be protected from further declines in genetic diversity.