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[人类多胞胎的遗传统计学分析。I. 多胞胎易感性的遗传分析]

[Genetic-statistical analysis of multiple births in humans. I. Genetic analysis of predisposition to multiple birth].

作者信息

Lil'in E T, Gindilis V M

出版信息

Genetika. 1976;12(9):118-27.

PMID:1010328
Abstract

Genetico-statistical analysis was made to check various hypotheses of the tendency to multiple birth inheritance. The material involved was comprised of 115 MZ and 228 DZ twin families burdened by recurrent cases of multiple births in their genealogy. Test data included 516 single birth probands, 5 from which had twins among sibs; this results in p = 0,97% for the evaluation of population frequency of the "affected" couples having twins). Vienberg proband method was applied to check monogenous-autosomal model and Edward & Smith approximating formulae to check additive-polygenous model with liminal results (manifestation). It is shown: 1) that the degree of genetical determination of MZ and DZ twinning is approximately the same for both multiple birth types; H-61 and 53% respectively; 2) in MZ twinning both mother's and father's genotypes perform as multiple birth factors; H-76% for the group of mother's sisters and 64% for that of father's brothers; 3) in case of DZ twinning mother's genotype is much more valid as a multiple birth factor as compared to the father's one; H-68% for the group of mother's sisters and H-25% for father's brothers; 4) at least some genetical factors, involved in multiple birth determination, are common for MZ and DZ twins; the rate of DZ twinning (of different sexes) among sibs of parents of MZ twins is reliable and more than 5-fold increases that in common population. It is suggested that the contradiction of literary data on multiple birth genetics is due to unadequate methods in many early investigations: calculations have been carried out on the basis of twin birth rate, and not on the rate of "affected" (couples having twins); differential Veinberg's method has been used, which is adequate in populational analysis and is unsuitable for genealogical studies for the estimation of MZ and DZ twinning frequency; cases of "sporadic" multiple birth have not been excluded from summary family material. On the basis of the authors' and literary data it is suggested also that the number of main genetic factors determining the tendency to multiple births is more than 2 (probably 3) and does not exceed 5, and their interaction approximated by oligenic-complementary model, which does not exclude the presence of genocopying loci in a total system.

摘要

进行了遗传统计学分析,以检验多胎生育遗传倾向的各种假设。所涉及的材料包括115对同卵双胞胎和228对异卵双胞胎家庭,其家族谱系中有多胎生育的复发病例。测试数据包括516名单胎出生的先证者,其中5人在同胞中有双胞胎;这导致评估有双胞胎的“受影响”夫妇的人群频率时p = 0.97%。采用维恩伯格先证者法检验单基因-常染色体模型,采用爱德华兹和史密斯近似公式检验具有阈性状结果(表现)的加性-多基因模型。结果表明:1)对于两种多胎生育类型,同卵双胞胎和异卵双胞胎的遗传决定程度大致相同;分别为H - 61%和53%;2)在同卵双胞胎中,母亲和父亲的基因型均作为多胎生育因素起作用;母亲姐妹组为H - 76%,父亲兄弟组为64%;3)在异卵双胞胎中,与父亲的基因型相比,母亲的基因型作为多胎生育因素的有效性要高得多;母亲姐妹组为H - 68%,父亲兄弟组为H - 25%;4)至少一些参与多胎生育决定的遗传因素是同卵双胞胎和异卵双胞胎共有的;同卵双胞胎父母的同胞中异卵双胞胎(不同性别)的发生率可靠,比普通人群高出5倍以上。有人认为,关于多胎生育遗传学的文献数据存在矛盾,是由于许多早期研究方法不当:计算是基于双胞胎出生率,而不是基于“受影响”(有双胞胎的夫妇)的发生率;使用了差异维恩伯格法,该方法在群体分析中适用,但不适用于谱系研究以估计同卵双胞胎和异卵双胞胎的频率;“散发性”多胎生育病例未从汇总的家族材料中排除。根据作者和文献数据还表明,决定多胎生育倾向的主要遗传因素数量超过2个(可能为3个)且不超过5个,它们的相互作用近似于寡基因-互补模型,这并不排除在整个系统中存在基因拷贝位点。

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