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遗传性球形红细胞增多症(HS)的连锁分析与基因定位

Linkage and gene localization of hereditary spherocytosis (HS).

作者信息

Kimberling W J, Taylor R A, Chapman R G, Lubs H A

出版信息

Blood. 1978 Nov;52(5):859-67.

PMID:100151
Abstract

Fifteen kindreds with dominant hereditary spherocytosis (HS) were studied. Expansion of the data from a family with an 8/12 translocation provided further evidence that at least one locus for HS is located near the breakpoint of the translocation. Linkage analysis of all families showed a lack of linkage with all marker loci studied except for Gm (IgG). Linkage between Gm and HS was shown to be significant with a maximum lod score of 3.42 at a recombination fraction of 22%. No heterogeneity of the recombination fraction was observed either between sexes or between families. These results are compatible with the hypothesis that HS is not a heterogeneous disorder.

摘要

对15个显性遗传性球形红细胞增多症(HS)家系进行了研究。一个发生8/12易位的家系的数据扩展提供了进一步的证据,表明至少一个HS基因座位于易位断点附近。对所有家系的连锁分析表明,除Gm(IgG)外,与所有研究的标记基因座均无连锁关系。Gm与HS之间的连锁在重组率为22%时,最大对数优势得分为3.42,具有显著意义。在性别之间或家系之间均未观察到重组率的异质性。这些结果与HS不是一种异质性疾病的假设相符。

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