同一家族中存在不同的H缺陷表型。

Different H deficient phenotypes present in one kindred.

作者信息

Salmon C, Rouger P, Rodier L, Liberge G, Juszczak G, Cartron J P, Mulet C, Lopez M

出版信息

Rev Fr Transfus Immunohematol. 1980;23(3):251-8. doi: 10.1016/s0338-4535(80)80129-2.

Abstract

Two different H deficient phenotypes are observed in one kindred. Three of them in two generations of a same family appear as Bombay like. In the other branch of the kindred, an Hz phenotype (as described in the editorial of this issue) is observed. The most simple explanation is that the three Bombay like phenotypes correspond to Hz ABH non secretor (Hz sese) individuals, this being indistinguishable from a true Bombay. The high level of I antigen in the plasma of the three Bombay like (as observed in Hz in contrast to true Bombay) could favour such an hypothesis. According to ORIOL'S new hypothesis [5], III2, III3 and IV2 would genetically be hh sese, III8 would be hh Se and the h Se would therefore be a recombining haplotype (the original haplotype being h se).

摘要

在一个家族中观察到两种不同的H缺陷表型。在同一个家族的两代人中，有三人表现出类孟买型。在该家族的另一分支中，观察到一种Hz表型（如本期社论中所描述）。最简单的解释是，这三种类孟买型表型对应于Hz ABH非分泌型（Hz sese）个体，这与真正的孟买型无法区分。这三个类孟买型个体血浆中高水平的I抗原（与真正的孟买型相比，在Hz中观察到）可能支持这一假设。根据奥里奥尔的新假设[5]，III2、III3和IV2在基因上应为hh sese，III8应为hh Se，因此h Se将是一个重组单倍型（原始单倍型为h se）。