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1.
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.  相似文献   

2.
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.  相似文献   

3.
为研究中国南方汉族人群核苷酸修复基因hMTH1遗传多态性,应用聚合酶链反应-单链构象多态性技术检测172名健康人外周血白细胞hMTH1基因启动子及全部5个外显子多态性,并进行DNA测序。结果发现hMTH1基因启动子及外显子1序列保守,未见突变;外显子2第73位碱基存在T→C杂合型突变,基因型TT和TC频率分别为93.02%、6.98%,等位基因T和C频率分别为96.51%、3.49%;外显子3第45位遗传密码存在T→C杂合型突变,基因型TT和TC频率分别为95.35%、4.65%,等位基因T和C频率分别为97.67%、2.33%,该多态性为首次发现;外显子4第83位遗传密码存在G→A杂合型突变,基因型GG和GA频率分别为89.53%、10.47%,等位基因G和A频率分别为94.77%、5.23%;外显子5第119位氨基酸遗传密码存在C→T杂合型突变,基因型CC和CT频率分别为95.93%、4.07%,等位基因C和T频率分别为97.97%、2.03%。Abstract: In order to study the genetic polymorphisms of nucleotide repair gene hMTH1 in southern Chinese Han population, the polymorphisms of the gene’s promoter and its five exons among peripheral blood lymphocytes of 172 Chinese Han people were analyzed with polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. The sequences of the promoter and exon 1 of hMTH1 gene were conserved. A T to C polymorphism was detected at the 73th base in exon2. The genotype frequencies of TT and TC were 93.02% and 6.98%, respectively. The allelic frequencies of T and C were 96.51% and 3.49%, respectively. A T to C polymorphism was detected at codon 45 in exon3, which was first reported. The genotype frequencies of TT and TC were 95.35% and 4.65%, respectively. The allelic frequencies of T and C were 97.67% and 2.33%, respectively. A G to A polymorphism was detected at codon 83 in exon4. The genotype frequencies of GG and GA were 89.53% and 10.47%, respectively. The allelic frequencies of G and A were 94.77% and 5.23%, respectively. A C to T polymorphism was detected at codon 119 in exon5. The genotype frequencies of CC and CT were 95.93% and 4.07%, respectively. The allelic frequencies of C and T were 97.97% and 2.03%, respectively.  相似文献   

4.
中国维吾尔族人群MSY1(DYF155S1)基因座多态性及其结构特点   总被引:2,自引:0,他引:2  
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.  相似文献   

5.
绵羊产羔性状主效基因检测研究   总被引:30,自引:6,他引:24  
以绵羊BMP15基因和BMPR-IB基因为候选基因,以湖羊、中国美利奴单胎品系、中国美利奴肉用和毛用多胎品系为研究对象,采用PCR-RFLP方法对候选基因进行单核苷酸多态性(SNP)位点检测和基因型分析,同时研究基因对绵羊产羔数的影响。对BMP15基因进行SNP检测,结果未发现多态性位点;对BMPR-IB基因进行多态性检测,结果发现了一个A746 G SNP位点。依据A746 G SNP位点进行基因型分析,结果在各品种(系)羊中发现了3种基因型,即BB、B+和++。等位基因型频率在各品种(系)间差异极显著(P<0.001),在湖羊中以BB基因型为主,在中国美利奴单胎品系中以++基因型为主, 而在中国美利奴肉用和毛用多胎品系中以B+基因型为主。BMPR-IB A746G位点的变异明显影响绵羊的产羔数,与++基因型母羊相比, BB和B+基因型母羊产羔数明显较多。研究结果同时表明,利用BMPR-IB基因型可以很好的预测母羊的产羔数。研究获得的这些结果强烈表明BMPR-IB为影响绵羊的产羔数的主效基因,可以用于对绵羊产羔数的选择。Abstract: The current study was designed to detect SNPs within BMP15 and BMPR-IB gene and investigate the effect of the genes on sheep litter size. Four sheep lines, HU-Yang, Chinese M erino monotocous, Chinese Merino multiparous for wool production and Chinese Merino multiparous for mutton production, were used in this study. Litter sizes were recorded for each ewe in the four lines. Primers for BMP15 and BMPR-IB gene were designed from database sheep sequence and polymorphisms were detected by PCR-RFLP method. The results showed that there was no polymorphism with BMP15 gene among the four lines, and there was an A / G SNP with BMPR-IB gene at base 746 among the four lines. Three types of genotype (BB, B+ and ++), based on A / G locus, were found within each line. The frequencies of genotypes were significantly different among the lines (P<0.001), with BB genotype primarily existing in HU-Yang, ++ genotype in Chinese Merino monotocous line, and B+ genotype in Chinnese Merino multiparous lines. The A / G mutation influence significantly the sheep litter sizes, and the BB and B+ ewes had significant higher litter sizes than ++ ewes. The results of present study showed simultaneously that the genotype of BMPR-IB was a perfect predictor of the sheep litter sizes. These results intensively indicated that BMPR-IB is a major gene to affect litter size in sheep, and could be used as the molecular genetic marker to select litter size in sheep.  相似文献   

6.
猪显性白毛调控基因(KIT)的研究   总被引:15,自引:0,他引:15  
邓素华  黄路生  任军  陈克飞  丁能水 《遗传》2000,22(6):434-436
猪的白毛色性状由显性基因KIT决定。本文从KIT基因的定位、突变分析、分子基础和作用机制等方面综述了对该基因的研究现状,叙述了KIT基因的研究意义。 Abstract:The dominant coat color in pigs is controlled by KIT gene.The current status of KIT gene is expressed in location、mutation、molecular basis and mechanism.Significance of KIT gene is also discussed in this paper.  相似文献   

7.
Fine-mapping of an Arabidopsis cell death mutation locus   总被引:2,自引:0,他引:2  
An Arabidopsis cell death mutation locus was mapped to chromosome 2 between lGS1 and mi421. The YAC clone ends, CIC9A3R, CIC11C7L, CIC2G5R and RFLP marker CDs3 within this interval, were used to probe TAMU BAC library and 31 BAC clones were obtained. A BAC contig encompassing the mutation locus, which consists of T6P5, T7M23, T12A21, T8L6 and T18A18, was identified by Southern hybridization with the BAC ends as probes. 11 CAPS and 12 STS markers were developed in this region. These results will facilitate map-based cloning of the genes and sequencing of the genomic DNA in this region.  相似文献   

8.
9.
目的:通过检测藏獒黑素皮质激素受体1(MC1R)基因的单链构象多态性(SSCP)在不同毛色群体中的分布,探讨MC1R基因多态性与毛色表型的相关性。方法:采用DNA测序技术,选择不同毛色藏獒的DNA为样本,根据GenBank发布的荷斯坦牛MC1R基因序列设计一对引物,采用PCR-SSCP技术分析MC1R基因在藏獒中的SSCP。结果:MC1R基因在藏獒中具有PCR-SSCP多态性,分别检测到3种基因型(AA、AB和BB);对MC1R基因多态性片段DNA克隆测序后发现,MC1R基因在编码区第313位存在单碱基突变(G→A),该突变导致第105位氨基酸发生由丙氨酸向苏氨酸的改变(T105A)。结论:MC1R基因的多态性与毛色性状不存在显著的相关性。  相似文献   

10.
云南怒族STR基因座遗传多态性研究   总被引:18,自引:4,他引:14  
本文选择9个STR基因座和Amelogenin基因座,利用基因测序,采用基因扫描技术,对云南怒族聚集地区84名无关个体血样进行研究,建立了云南怒族9个STR基因座的基因频率数据库。用χ2检验,9个STR基因座基因型分布符合Hardy-Weinberg平衡定律。与其他民族资料一样,本课题所获得的云南怒族9个STR基因座数据是一组有价值的DNA多态性遗传标记资料。为建立我国不同民族STR基因数据库提供了资料。 Abstract:In this study,blood samples were randomly drawn from 84 unrelated Nu individuals.The polymorphism of nine STR loci and Amelogenin locus were determined by DNA GeneScan.The genetic database on the distribution of gene frequency on the nine STR loci was established,statistical results showed that the genotype distributions were in agreement with Hardy-Weinberg equation.Compared with other population,the results in our study were of great value in human DNA genetic data instant method with the characteristics of precision and sensitivity.  相似文献   

11.
犬MC1R基因R306ter与毛色性状相关性研究   总被引:1,自引:0,他引:1  
目的 分析犬MC1R基因中R30 6ter位点多态性与犬毛色表型的相关性 ,为遗传育种 ,培育出更加优良的实验用犬奠定基础。方法 采用PCR SSCP技术 ,对MC1R基因R30 6ter位点进行基因多态性检测 ,分析位点多态性与毛色性状之间的相关性 ,并对该位点进行克隆测序。结果 PCR SSCP分析结果表明 ,R30 6ter位点序列具有多态性 ,表现为C、D二个等位基因和CC、CD及DD三种基因型。对R30 6ter多态性片段克隆测序发现 ,MC1R基因在编码第 30 6位氨基酸的密码子处存在一个由CGA到TGA的终止突变。结论 经统计分析结果表明在杂种犬中MC1R基因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教学用犬是杂种犬 ,其遗传背景不同所致。由于MC1R基因的R30 6ter位点内存在碱基变异 ,因此在杂种犬中表现出明显的PCR SSCP多态性  相似文献   

12.
比格犬MC4R基因多态性与体重相关性的研究   总被引:11,自引:3,他引:8  
张轶博  巴彩凤  苏玉虹  曾瑞霞 《遗传》2006,28(10):1224-1229
为了分析比格犬黑素皮质素受体-4基因多态性与犬体重的关系, 根据犬MC4R基因DNA外显子序列, 设计MC4R基因特异PCR引物1对, 犬DNA经PCR扩增, 克隆和测序, 寻找和确定犬MC4R基因的多态性位点, 分析多态性与犬体重的关系。结果在比格犬MC4R基因中发现2处单碱基缺失突变, 1个单碱基颠换变异, 存在Psh AⅠ酶切位点, 并基于PshAⅠ酶切位点建立了PCR-RFLP技术。统计分析显示犬MC4R基因型与体重显著相关, 可以考虑将MC4R基因作为犬体重的候选基因。  相似文献   

13.
Cream dogs of several breeds require a genotype of e/e at MC1R based on 27 individuals in this study. All Akita, Caucasian Mountain Dogs, German Shepherd Dogs, Miniature Schnauzer, and Puli with this genotype are cream, suggesting they are fixed at a second locus which causes the phaeomelanin pigmentation caused by this genotype to be diluted or pale. Conversely, although all Chinese Shar-Pei and Poodles that were cream had an e/e genotype at MC1R, not all dogs with this genotype are cream. Today, many Golden Retrievers and Labrador Retrievers with an e/e genotype are cream instead of the traditional yellow to golden color seen in the past. The second gene in these breeds must have multiple alleles, only one of which causes phaeomelanin pigment to be diluted or pale. Tyrosinase (TYR) and solute carrier family 45, member 2 (SLC45A2) have been shown to cause cream coat color in other species and were therefore investigated in dogs as candidate genes for this second locus. Although polymorphisms were detected in cDNA sequence from TYR and SLC45A2, no polymorphism was consistently associated with cream dogs or cosegregated with cream coat color in any of the families used in this study. A microsatellite was detected in a published BAC sequence (GenBank no. AAEX01017083) in intron 2 and was used to map SLC45A2 to CFA4.  相似文献   

14.
The melanocyte-stimulating hormone receptor gene (MC1R) is the major candidate gene for the chestnut coat color in horses since it is assumed to be controlled by an allele at the extension locus. MC1R sequences were PCR amplified from chestnut (e/e) and non-chestnut (E/−) horses. A single-strand conformation polymorphism was found that showed a complete association to the chestnut coat color among 144 horses representing 12 breeds. Sequence analysis revealed a single missense mutation (83Ser → Phe) in the MC1R allele associated with the chestnut color. The substitution occurs in the second transmembrane region, which apparently plays a key role in the molecule since substitutions associated with coat color variants in mice and cattle as well as red hair and fair skin in humans are found in this part of the molecule. We propose that the now reported mutation is likely to be the causative mutation for the chestnut coat color. The polymorphism can be detected with a simple PCR-RFLP test, since the mutation creates a TaqI restriction site in the chestnut allele. Received: 20 May 1996 / Accepted: 31 July 1996  相似文献   

15.
TYRP1 and MC1R genotypes and their effects on coat color in dogs   总被引:8,自引:0,他引:8  
We used PCR amplification of cDNA prepared from skin biopsies to determine the nearly full-length, protein-coding sequence of dog TYRP1, and to define sequence variants potentially responsible for the B locus. One common variant contained a premature stop codon in exon 5 (Q331ter), and the other deleted a proline residue in exon 5 (345delP). A third variant in exon 2 (S41C) occurred less frequently. We genotyped 43 brown (including brown and white) and 34 black (including tricolor, black-and-tan, and black and white) dogs. All 43 of the brown group carried two or more of these sequence variants likely to interfere with TYRP1 function, whereas 0 of 34 in the black group carried two or more of these variants (10 carried one variant). We also genotyped 13 black-nosed and 10 brown-nosed dogs whose coat color was described as red, yellow, gold, apricot, or orange (including various degrees of white). All these dogs were homozygous for a R306X MC1R variant shown to be associated with these coat color phenotypes. The black or brown nose correlated perfectly with the absence or presence of the same three TYRP1 variants described above. TYRP1 was linkage mapped to dog chromosome 11, with a SNP in exon 7.  相似文献   

16.
The melanocortin receptor 1 (MC1R) plays a central role in regulation of eumelanin (black/brown) and phaeomelanin (red/yellow) synthesis within the mammalian melanocyte and is encoded by the classical Extension (E) coat color locus. Sequence analysis of MC1R from seven porcine breeds revealed a total of four allelic variants corresponding to five different E alleles. The European wild boar possessed a unique MC1R allele that we believe is required for the expression of a wild-type coat color. Two different MC1R alleles were associated with the dominant black color in pigs. MC1R*2 was found in European Large Black and Chinese Meishan pigs and exhibited two missense mutations compared with the wild-type sequence. Comparative data strongly suggest that one of these, L99P, may form a constitutively active receptor. MC1R*3 was associated with the black color in the Hampshire breed and involved a single missense mutation D121N. This same MC1R variant was also associated with EP, which results in black spots on a white or red background. Two different missense mutations were identified in recessive red (e/e) animals. One of these, A240T, occurs at a highly conserved position, making it a strong candidate for disruption of receptor function.  相似文献   

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18.
Melanocortin 1 receptor (MC1R), a G-coupled seven-transmembrane receptor protein, plays a key role in the regulation of melanin synthesis in mammals. Sequence variation of the MC1R gene (MC1R) has been associated with pigmentation phenotypes in humans and in several animal species. The macaques (genus Macaca) are known to show a marked inter-specific variation in coat color although the causative genetic variation remains unclear. We investigated nucleotide sequences of the MC1R in 67 individuals of 18 macaque species with different coat color phenotypes including black and agouti. Twenty-eight amino acid replacements were identified in the macaques, but none of these amino acid replacements could explain the black coat color of Macaca silenus and the Sulawesi macaque species. Our molecular evolutionary analysis has revealed that nonsynonymous substitution/synonymous substitution (dN/dS) ratio of the MC1R has not been uniform in the macaque groups and, moreover, their coat color and dN/dS ratio were not related. These results suggest that the MC1R is unlikely to be responsible for the coat color variation of the macaques and functions of MC1R other than pigmentation might be associated with the different selective pressures on the MC1R in macaques.  相似文献   

19.
Thecoatcolorisanimportantcharacteristicofapigbreed,andcanbeclassifiedintomanytypes.Thecolorvariationsareeitherduetothedistributionofmelanocytesintheskinortotheabilityofmelano-cytestoproducemelaningranules.Thesynthesisofmelaninoriginatedfromtheformationofneuralcrest-derivedcells,whichhavetwomigrationroutes[1,2].Themelanocytesaretheramificationswhiletheneuralcrest-derivedcellsmigrateviadorsalroute[3].Andtheyprovidethefactoryformelaninsynthesis.Al-thoughtherearemanykindsofpigmentsinvertebralanim…  相似文献   

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