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一名具有MNS系统S-s-p表型的白人女性中的HLA A/B重组。

HLA A/B recombination in a white woman with the S-s-phenotype of the MNS system.

作者信息

Salaru N N

机构信息

Instituto de Medicina Social e Criminologia de São Paulo.

出版信息

Rev Assoc Med Bras (1992). 1995 Mar-Apr;41(2):139-40.

PMID:8520596
Abstract

In cases of disputed parentage, the possibility of simultaneous occurrence of rare events in the population must be considered. PURPOSE--To report a case in which HLA-A/B recombination and homozygosity of a silent allele, typical of Negroes, in an individual apparently without this miscegenation were coexistent. METHODS--Alleged father, mother and dizygotic twin children were racially classified according to their apparent somatic characters. Blood group genetic markers of ABO, Rh, MNS, Kell, Duffy, HLA-A, -B systems were phenotyped; mother's HLA genotyping was performed by her parents test. RESULTS--The phenotype of the White mother, in the MNS system, was M+; N-; S-; s-. Alleged father and both twins were phenotipically compatible. The assumed maternity relating to both children was possible if mother presented an HLA-A/B recombination. CONCLUSION--In miscegenated populations, the breakup between ethnical appearance and blood group markers is foreseeable. Allele/haplotypic frequencies of these populations should be estimated. Casuistically, the association of events with low frequency in the population can be the cause of apparent exclusions of parentage.

摘要

在亲子关系存在争议的案例中,必须考虑人群中罕见事件同时发生的可能性。目的——报告一例HLA - A/B重组与一个沉默等位基因纯合现象同时存在的案例,该沉默等位基因是黑人典型特征,而个体表面上并无这种混血情况。方法——根据疑似父亲、母亲和异卵双胞胎孩子的明显身体特征进行种族分类。对ABO、Rh、MNS、Kell、Duffy、HLA - A、- B系统的血型遗传标记进行表型分析;母亲的HLA基因分型通过其父母检测进行。结果——白人母亲在MNS系统中的表型为M +;N -;S -;s -。疑似父亲和两个双胞胎在表型上是相容的。如果母亲出现HLA - A/B重组,那么与两个孩子的假定亲子关系是可能的。结论——在混血人群中,种族外貌与血型标记之间的分离是可预见的。应该估计这些人群的等位基因/单倍型频率。偶然地,人群中低频事件的关联可能是亲子关系明显排除的原因。

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