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GPT系统的遗传学。家族研究、母婴研究及关联研究。

Genetics of the GPT system. Family, mother/child and association studies.

作者信息

Olaisen B

出版信息

Clin Genet. 1975 Mar;7(3):245-54. doi: 10.1111/j.1399-0004.1975.tb00326.x.

Abstract

GPT types are presented for 150 Norwegian matings, with 454 children, and 1703 Norwegian mother/child combinations. There were five exceptions to a simple codominant inheritance pattern, all believed to be due to a segregating Gpt-0-allele. Rare phenotypes were encountered in two of the families and in 11 of the mother/child combinations. Compiled family material and mother/child material are presented. No indication of association was found between GPT types and phenotypes within the ABO, Rh, MN, Hp, Gc, C3, PGM1, and ACP1 systems. There is a marked association between EBS-Ogna (epidermolysis bullosa simplex, type Ogna) affection and GPT phenotypes. This reflects the Gpt-EBS1 linkage phase. No evidence was found of association between GPT phenotypes and either nephrological diseases or PKU (phenylketonuria).

摘要

呈现了150对挪威配偶、454名子女以及1703对挪威母婴组合的GPT类型。简单共显性遗传模式有五个例外情况,均被认为是由于一个分离的Gpt - 0等位基因所致。在两个家族以及11对母婴组合中遇到了罕见表型。展示了汇编的家族资料和母婴资料。在ABO、Rh、MN、Hp、Gc、C3、PGM1和ACP1系统内,未发现GPT类型与表型之间存在关联迹象。EBS - Ogna(奥尼亚单纯性大疱性表皮松解症)病症与GPT表型之间存在显著关联。这反映了Gpt - EBS1连锁相。未发现GPT表型与肾病或苯丙酮尿症之间存在关联证据。

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