利手、优势足及扣手的遗传方式初探

采用Slater区分单基因和多基因遗传的计算模式及Smith无偏分析方法对21个家系资料的分析表明：利手、优势足、扣手特征均为常染色体单基因显性遗传,R型为显性性状。虽然环境因素对这类特征的表现也有一定的影响,但遗传因素仍起主要作用。 Abstract:The data of 21 families were analyzed by the method of Slater's calculating model to differentiate between single-gene and multi-gene heredity and by the method of non-deviation analysis.The results showed that the hereditary mode of handedness or preferential foot or hand-clasping is the dominant heredity of single gene of autosome,and the right type of all of them is the dominant character.In a way,although environmental factors affected the phenotypes of these characters,hereditary factors were also the decisive ones.     

内蒙古三个民族舌运动类型的遗传学研究

调查了内蒙古汉、蒙古、回族舌运动类型(卷舌、翻舌、叠舌、三叶舌与尖舌),共716例。研究结果显示:各种舌运动类型出现率性别间均无显著性差异;卷舌基因分别与叠、翻、尖、三叶舌基因间存在着互相作用关系,卷舌基因对叠舌基因是隐性上位基因,对翻舌、尖舌、三叶舌基因是修饰基因;内蒙古3个民族间卷、叠、尖舌出现率接近。本文首次调查并研究了尖舌性状。尖舌在过去国内外文献中未见报道。 Abstract:The tongue moving types(including tongue rolling,tongue twisting,tongue folding,clover-leaf tongue and pointed tongue)of 716 cases of Han,Mongol and Hui nationalities in Inner Mongolia were investigated.The results showed that no difference in the frequencies of various tongue moving types between male and female and that the frequencies of rolling,folding and pointed tongue were close to each other among the three nationalities of Inner Mongolia.However,some interactions between genes were revealed,that the rolling gene is a recessive epistatic gene to folding gene and a modifier gene to twisting,pointed and clover-leaf gene respectively.The research on pointed tongue in this paper has never been reported in China and abroad.     

家族高发性2型糖尿病的遗传模式研究

对1999～2000年门诊及住院的家族高发性2型糖尿病患者为先证者的136个大家系进行研究,以探讨该病的遗传模式。对家系人群采用Falconer 法估算遗传率,用Penrose法进行多基因分析,并用S.A.G.E-REGD软件拟合A型回归Logistic模型进行复合分离分析的方法,对家族高发性2型糖尿病家系进行研究。结果表明,136个大家系的2型糖尿病遗传率为94.07%±5.84%,提示在这些家系中可能有显性主基因存在。多基因分析研究表明,在该人群中,2型糖尿病因性别不同而存在两种遗传模式。复合分离分析拒绝单纯环境模型、非传递模型、共显性模型,接受隐性模型和显性模型,但隐性模型为最佳遗传模式。因此,2型糖尿病具有高度的遗传性和遗传异质性,总体表现为多因子遗传,在部分遗传背景较一致的家系人群中可能存在由主要基因决定的常染色体显性遗传。 Abstract:This study is to explore the genetic model of type 2 diabetes mellitus (type 2 DM) among the hereditary family.One hundred and thirty-six pedigrees of familial type 2 DM were studied.The heritability of type 2 DM was estimated according to Falconer's method and the multi-factorial inheritance analyzed according to Penrose's method.Complex segregation analysis was performed using S.A.G.E-REGD.The heritability of familial type 2 DM was 9407%±5.84%.Dominant major gene might influence the genesis of type 2 DM.Analysis of multi-factorial inheritance indicated that there be two genetic patterns respectively in male and female populations.By complex segregation analysis,environment,non-transmitted and co-dominant inheritance were rejected.Autosomal dominant (AD) inheritance and autosomal recessive (AR) inheritance was accepted but AR inheritance was the best pattern.This study suggested that type 2 DM had significant heritability and genetic heterogeneity,which appeared to be a disease of multi-factorial inheritance generally and autosomal dominant (AD) inheritance in part of pedigrees.     

苯丙酮尿症分子遗传学研究进展

苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。文章综述了苯丙酮尿症中的苯丙氨酸羟化酶基因的定位、结构、突变、调控以及突变基因的体外表达和苯丙氨酸羟化酶的三维结构特点等分子遗传学进展,阐述了苯丙氨酸羟化酶基因的突变对苯丙氨酸羟化酶的体外表达及其三维结构的影响, 以及部分基因型与表型相关的分子机制。 Abstract: Phenylketonuria(PKU) is one kinds of autusomal recessive disease caused by phenylalanine hydroxylase(PAH) gene mutation. This article reviews the recent molecular heredity progress on the phenylalanine hydroxylase gene’s orientation、structureand gene mutation and gene regulation. At same time, mutation gene in vitro expression and the character of 3D structure of PAH in PKU are involved. In this paper, also discussed the inflence of vitro expression and 3D protein structure by gene mutations and the molecular mechanism of the relationship between genotype and phenotype in PKU patient.     

小麦干尖叶的遗传研究初报

小麦干尖叶是近年在小麦育种中所发现的一种叶部坏死性状,直接影响小麦的产量。本文以具有干尖叶与正常叶这一相对性状的部分小麦品种(系)为基本材料,采用正反杂交、正反回交及杂种后代分析和异源细胞质替换,首次对干尖叶的遗传及性状传递规律进行了研究。结果表明:干尖叶性状与一般杂种坏死与黄化截然不同, 并非仅杂种所具有,能作为纯系稳定遗传; 其表型受核内一对主效显性基因所控制,即使采用异源细胞质替换, 以特定质核互作也难以克服这一性状的对外表达,只有通过杂交与后代选择,纯化与稳定隐性正常叶方可克服。 Abstract:In this paper,the inheritance and transmission law of the character for wheat leaf-tip necrosis were firstly investigated with the contrasting character of leaf-tip necrosis and normal leaf in wheat varieties for basic test materials by reciprocal crosses and backcrosses,hybrid progeny analysis and aliencytoplasm substitution.The results indicated that the wheat leaf-tip necrosis is abviously different from the hybrid necrosis and hybrid chlorosis.It is not only expressed in hybrid but also stable inheritance as pureline.Its phenotype is conditioned by a pair major dominant gene.It is not overcome even if special interaction of nucleus-cytoplasm after alien cytoplasm substitution.Only be the varieties or lines with normal leaf obtained by crossing and selecting stable normal leaf character with recessive gene.     

玉米耐铝性的遗传分析

以两个耐铝性不同的玉米自交系及它们的杂交和回交世代为材料,采用营养液培养方法,对玉米的耐铝性进行了遗传分析。结果表明,根系相对生物量具有较高的的遗传变异,其广义遗传率高达78.6%。但其狭义遗传率仅为15.4%,说明其遗传方式以显性效应为主。相反,地上部相对生物量具有相对较高的狭义遗传率（43.1%）,其遗传方式以加性效应为主。在0.1m mol/L Al3+ 胁迫条件下,根系总的和活跃的吸收比表面遗传率较低,说明此根系活力性状受环境影响较大。Abstract: The heredity of Al-tolerance was studied in different Al-tolerance of two inbred lines of maize and their F1, F2, B1 and B2 generations by the means of nutritional cultivation. The results indicated that the relative biomass(Al/CK) of root had high hereditary variance, the broad-sense heredity reached 78.6 %, but narrow-sense heredity only had 15.4 %. Its hereditary pattern mainly was dominant effects. On contrast, the relative biomass of shoot had high narrow-sense heredity (43.1%), it means that the hereditary pattern of relative biomass of shoot mainly was additive effects. On the hereditary ground of 0.1 mmol/L Al3+, the broad-sense heredity of total absorbing surface to volume ratio and active absorbing surface to volume ratio were 17.9 % and 36.4 %, and narrow-sense heredity of them were 10.0 % and 18.4 %. It means that the characters of root activity were obviously affected by environment.     

Characterization and mapping of a novel mutant sms1 （senescence and male sterility 1） in rice

Plant senescence plays diverse important roles in development and environmental responses.However,the molecular basis of plant senescence is remained largely unknown.A rice spontaneous mutant with the character of early senescence and male sterility (sms) was found in the breeding line NT10-748.In order to identify the gene SMS1 and the underlying mechanism,we preliminarily analyzed physiological and biochemical phenotypes of the mutant.The mutant contained lower chlorophyll content compared with the wild type control and was severe male sterile with lower pollen viability.Genetic analysis showed that the mutant was controlled by a single recessive gene.By the map-based cloning approach,we fine-mapped SMS1 to a 67 kb region between the markers Z3-4 and Z1-1 on chromosome 8 using 1,074 F2 recessive plants derived from the cross between the mutant sms1 (japonica) × Zhenshan 97 (indica),where no known gene involved in senescence or male sterility has been identified.Therefore the SMS1 gene will be a novel gene that regulates the two developmental processes.The further cloning and functional analysis of the SMS1 gene is under way.     

梨果实肉质遗传模式的探讨

根据3种类型梨杂交组合后代的遗传表现,提出梨果实肉质遗传模式为:梨果实肉质的脆软肉遗传为质量性状遗传,由A、B两对基因控制。软肉对脆肉为显性,只有两对基因同时隐性纯合时才表现为脆肉。脆肉基因型为aa bb,软肉基因型为A_ _ _、_ _B_,该模式可解释前人的部分研究成果。 Abstract:The crispness and softness of flesh texture in pear are qualitative characters,controlled by two genes A,B.The softness is dominant to crispness,only when two genes are recessive homozygous,the phenotype is crispness.The genotype of crispness is aabb,the genotypes of softness are A_ _ _,_ _ B_,Some factors may affect flesh also.     

新疆蒙古族对糖精和乙酰水杨酸尝味能力的分析

对710名（男328人,女382人）新疆蒙古族进行了糖精和乙酰水杨酸尝味能力的检测分析。结果表明,蒙古人群中的糖精味盲率为4.648%,没有尝味能力的隐性基因频率为0.2156,具有尝味能力的显性基因频率为0.7844,平均尝味阈值为8.009±1.34（0.108mol/L）。乙酰水杨酸的尝味阈值分布出现了非常明显的双峰一谷分布,表明该性状是单基因决定的性状,谷底7号液（3.00×10-4 mol/L）是味盲的界限,味盲的峰值在1号液(1.7×10-2mol/L),尝味者的峰值在11号液（1.25×10-5mol/L）,味盲率为90.282%,。经χ2检验,男、女性的味盲率无显著差异（P＞0.90）,表明决定乙酰水杨酸尝味能力的基因位于常染色体,对该基因的显隐性等特点尚需通过家系分析进行确定。 Abstract:The saccharin and aspirin tasting abilities have been detected and analyzed in 710 individuals (328men,382women)of Xinjiang Mongol.It is showed that the saccharin taste- blindness ratio among Mongolians was 4.648%,frequency of the recessive gene determining taste-blindness and the dominant gene determining taste ability was 0.2156,and 0.7844 respectively,and its mean testable threshold was 8.00±1.34 (0.108mol/L).Distribution of aspirin tasting threshold appeared a distinct curve with double peaks and single bottom,and demonstrated the aspirin tasting ability was a monogenic character.Solution NO.7 (3.00×10-4mol/L) at the bottom in the curve was the boundary of taste-blindness.The peak of taste-blindness was at the solution NO.1 (1.7×10-2mol/L),and the peak of tasters was at the solution NO.11 (1.25×10-5mol/L),The ratio of aspirin taste-blindness was 90.28%.The χ2 test has been used to evaluate the statistical difference in aspirin taste-blindness ratio between male and female,the result showed that there was no significant difference (P＞0.90),and the gene determining for aspirin tasting ability located on autosomes.     

Finding Signals for Plant Promoters

The strongest signal of plant promoter is searched with the model of single motif with two types. It turns out that the dominant type is the TATA-box. The other type may be called TATA-less signal, and may be used in gene finders for promoter recognition. While the TATA signals are very close for the monocot and the dicot, their TATA-less signals are significantly different. A general and flexible multi-motif model is also proposed for promoter analysis based on dynamic programming. By extending the Gibbs sampler to the dynamic programming and introducing temperature, an efficient algorithm is developed for searching signals in plant promoters.     

利手、优势足及扣手的遗传方式初探

采用Slater区分单基因和多基因遗传的计算模式及Smith无偏分析方法对21个家系资料的分析表明：利手、优势足、扣手特征均为常染色体单基因显性遗传,R型为显性性状。虽然环境因素对这类特征的表现也有一定的影响,但影响因素仍起主要作用。     

欧报春（Primula vulgaris）不同花色与色素关系及花色遗传初步分析

为了掌握欧报春各花色遗传规律服务于良种生产,通过对欧报春各色花进行色素吸收光谱和薄层层析分析,进行不同花色杂交研究,分析了欧报春各色花所含色素类型及各花色遗传规律。结果显示欧报春群体含多种花色素,单株也可含有多种花色素,形成多变的粉色、红色及蓝色花。黄色深浅主要由类胡萝卜素含量决定。白色对粉色及黄色为隐性遗传,黄色、粉色为显性遗传并有数量遗传特征,黄色与粉色独立遗传。蓝色为多基因控制的隐性遗传,并具有数量遗传特征。     

Medical genetics study of the population of Kostroma Province. II. The diversity of hereditary pathology in 5 districts of the province

The diversity of hereditary pathology in 5 regions of Kostroma district was studied. 32 nosological forms of autosomal dominant, 30 autosomal recessive and 7 X-linked recessive disorders were found. The most frequent autosomal dominant disorders were: neurofibromatosis, pigmentary degeneration of retina, hypochondroplasia, ichtiosis, idiopathic scoliosis. The most frequent among the autosomal recessive disorders were: oligophrenia, pigmentary degeneration of retina, muscular atrophy of juvenile Kugelberg--Welander type, congenital cataract. The most frequent X-linked disorders were: muscular Duchenne type dystrophy and hemophilia A. Analysis of mutant gene distribution over the territory by the study of birthplaces of probands and their parents was carried out.     

Medico-genetical study of the population of the Kostroma Region. IV. Genetic load and diversity of hereditary pathology in 5 districts

Data on the prevalence of hereditary diseases in five regions of the Kostroma province were obtained and analysed. 28 autosomal recessive, 25 autosomal dominant and 4 X-linked recessive disorders were found. Segregation analysis proved the rightness of the material subdivision, according to the type of inheritance. The load of hereditary diseases in five regions was: 0.86 +/- 0.09 X 10(3) for autosomal recessive, 0.97 +/- 0.1 X 10(3) for autosomal dominant and 0.36 +/- 0.09 X 10(3) for X-linked recessive disorders. The problems of prevalence of hereditary diseases connected with population structure is discussed.     

贵州布依族、仫佬族和毛南族9对遗传性状的基因频率

对贵州布依族、仫佬族和毛南族1239例的9对遗传性状的基因频率进行了调查, 并对民族间基因频率差异进行显著性检验。结果显示: 卷舌和小指弯曲的显性基因频率高于隐性基因频率, 而叠舌、前额发际、发旋、耵聍、拇指类型、中指毛、环食指长则相反; 卷舌、叠舌、前额发际、耵聍、拇指类型、环食指长的基因频率在民族间差异较大, 而发旋、中指毛、小指弯曲则相对较小。     

Inheritance of awn absence in tetraploid wheat species

Awn absence was shown to be inherited as a dominant character in the tetraploid wheat species Triticum dicoccum (Schrank) Schuebl. and T. durum Desf. but as a recessive one in T. aethiopicum Jakubz. The monogenic control of the character was demonstrated for all studied species. In accessions of emmer and durum wheat, the character is controlled by the dominant gene B1, located on chromosome 5A, and in Ethiopian wheat, by a recessive gene, which we designated as awn. The recessive awn gene was localized on chromosome 3B of T. aethiopicum with the use of D-genome disomic substitution lines of cultivar Langdon.     

A recessive mutant causing testicular/ovarian teratoma in rats (Tera strain)

A hereditary testicular/ovarian teratoma strain (Tera) of rats was developed from the Csk: Wistar-Imamichi strain. As the teratoma consisted of tridermic tissues such as bone, epithelium and neural tissue, it was diagnosed as triphyllomatous teratoma. The frequency of the teratoma was about 25% in either sex, with no sexual difference. Accordingly, the heredity of the teratoma appeared to be an autosomal single recessive trait (symbol, tera).     

Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy

Conventional PCR methods combined with linkage analysis based on short tandem repeats(STRs) or Karyomapping with single nucleotide polymorphism(SNP) arrays, have been applied to preimplantation genetic diagnosis(PGD) for spinal muscular atrophy(SMA), an autosome recessive disorder. However, it has limitations in SMA diagnosis by Karyomapping, and these methods are unable to distinguish wildtype embryos with carriers effectively. Mutated allele revealed by sequencing with aneuploidy and linkage analyses(MARSALA) is a new method allowing embryo selection by a one-step next-generation sequencing(NGS) procedure, which has been applied in PGD for both autosome dominant and X-linked diseases in our group previously. In this study, we carried out PGD based on MARSALA for two carrier families with SMA affected children. As a result, one of the couples has given birth to a healthy baby free of mutations in SMA-causing gene. It is the first time that MARSALA was applied to PGD for SMA, and we can distinguish the embryos with heterozygous deletion(carriers) from the wild-type(normal) ones accurately through this NGS-based method. In addition, direct mutation detection allows us to identify the affected embryos(homozygous deletion), which can be regarded as probands for linkage analysis, in case that the affected family member is absent. In the future, the NGS-based MARSALA method is expected to be used in PGD for all monogenetic disorders with known pathogenic gene mutation.     

Recessive sex-determining genes in human XX male syndrome

Maleness is normally inherited as a dominant trait (a single copy of the Y chromosome induces testicular differentiation of the embryonic gonad), but our genealogic study of three XX males in one pedigree indicated an autosomal recessive mode of male inheritance. Subsequent study revealed the presence of H-Y antigens in the three XX males and in their mothers, and suggested that excess H-Y may be found in the fathers. Inasmuch as H-Y loci have been mapped to the human Y chromosome, these data favor the view that H-Y structural loci comprise a family of testis-determining genes, and that Y autosome (or Y-X) translocation can generate either dominant or recessive modes of XX sex reversal, depending upon the particular portion of H-Y genes transferred.