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[疑似重组病例中HLA-A、B结果的生物统计学评估]

[Biostatistical evaluation of HLA-A, B findings in cases with suspected recombination].

作者信息

Fukshansky N, Hummel K

机构信息

Institut für Blutgruppenserologie, Universität Freiburg, Bundesrepublik Deutschland.

出版信息

Z Rechtsmed. 1988;100(4):243-57. doi: 10.1007/BF00201160.

DOI:10.1007/BF00201160
PMID:3176715
Abstract

In a given case with two or more siblings the bloodgroup findings may yield a high plausibility of paternity for the alleged father of the children whilst the HLA-A,B characteristics may exhibit an exclusion of fatherhood of one or other of the siblings. But this "exclusion" may disappear assuming an HLA-A,B recombination of a father's (or mother's) gamete. In such cases simple calculations (i.e., by hand) can provide the serostatistical characteristic L = Y/X (after Essen-Möller) for the given HLA-A,B constellation. In two-child cases with HLA-A,B findings for the putative father, the two pedigrees for the counterhypothesis Y are Yg1 and Yg2. The one holds for the case where the putative father is the father of child 1 and the other for the case where he is the father of child 2; in each case an unknown man is the father of the other child. The likelihood ratio is calculated as follows: L = Y/X = 1/r.p(3,3).p(3,4).[p(4,4) + p(4,3)]/[p(3,3).p(4,4) + p(3,4).p(4,3)], where p(3,3) and p(4,4) are the frequencies of the putative father's HLA-A,B haplotypes in the pedigree YH1, p(3,4) and p(4,3) those in pedigree YH2, and where r is the recombination rate. In three-child cases and others in which the putative father is deceased and HLA results from legitimate children or siblings are available, and in which fatherhood is only possible if a recombinant haplotype interferes, only one counter-hypothesis exists. In these cases, the likelihood ratio is represented by L = Y/X = 2/r.p(HR).2I, where p(HR) means the frequency of the recombinant HLA-A,B haplotype, r the recombination rate and I(0, 1 or 2) the "difference in determined types."

摘要

在一个涉及两个或更多兄弟姐妹的特定案例中,血型检测结果可能使被指控的孩子父亲具有较高的亲子关系可能性,而HLA - A、B特征可能显示一个或另一个兄弟姐妹被排除亲子关系。但假设父亲(或母亲)的配子发生HLA - A、B重组,这种“排除”可能消失。在这种情况下,简单计算(即手动计算)可以为给定的HLA - A、B组合提供血清统计学特征L = Y/X(根据埃森 - 默勒方法)。在有假定父亲的HLA - A、B检测结果的二孩案例中,反假设Y的两个谱系分别是Yg1和Yg2。一个适用于假定父亲是孩子1的父亲的情况,另一个适用于他是孩子2的父亲的情况;在每种情况下,另一个孩子的父亲是未知男子。似然比计算如下:L = Y/X = 1/r.p(3,3).p(3,4).[p(4,4) + p(4,3)]/[p(3,3).p(4,4) + p(3,4).p(4,3)],其中p(3,3)和p(4,4)是假定父亲的HLA - A、B单倍型在谱系YH1中的频率,p(3,4)和p(4,3)是在谱系YH2中的频率,r是重组率。在三孩案例以及其他假定父亲已去世且有合法孩子或兄弟姐妹的HLA结果可用的案例中,并且只有当重组单倍型起作用时亲子关系才有可能,此时只存在一个反假设。在这些情况下,似然比表示为L = Y/X = 2/r.p(HR).2I,其中p(HR)表示重组HLA - A、B单倍型的频率,r是重组率,I(0、1或2)是“确定类型的差异”。

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本文引用的文献

1
[Calculation of the plausibility of paternity in the HL-A system (author's transl)].[HL - A系统中亲子关系可能性的计算(作者译)]
Z Immunitatsforsch Exp Klin Immunol. 1972 Jul;144(1):18-27.
2
[The "utility" principle within the scope of forensic determination of blood kinship using serostatistics].[血清统计学在法医血缘关系鉴定范围内的“效用”原则]
Z Rechtsmed. 1987;98(2):111-8. doi: 10.1007/BF00200467.
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On the heterogeneity of linkage estimations between LA and four loci of the HL-A system,关于洛杉矶(LA)与组织相容性抗原A(HL - A)系统四个位点之间连锁估计的异质性
Tissue Antigens. 1975 Apr;5(2):99-102. doi: 10.1111/j.1399-0039.1975.tb00536.x.
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[A method to calculate the plausibility of paternity using blood group results of any relatives (author's transl)].一种利用任何亲属的血型结果计算父权可能性的方法(作者译)
Z Immunitatsforsch Exp Klin Immunol. 1975 Jul;149(5):405-16.