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PGI*3(以色列),磷酸葡萄糖异构酶系统中的一个新的不稳定等位基因。

PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system.

作者信息

Bonné-Tamir B, Papiha S S, Ashbel S, Brok-Simoni F, Kende G, Ramot B

出版信息

Hum Genet. 1987 Sep;77(1):76-9. doi: 10.1007/BF00284718.

Abstract

Phosphoglucose isomerase (PGI) and 16 other biochemical genetic markers were studied in an Israeli-Arab family previously described for hereditary deficiency of adenylate kinase (AK) and glucose 6-phosphate dehydrogenase (G6PD). In this inbred family a rare PGI3 allele was observed in 11 of 32 members tested, indicating an autosomal codominant inheritance. The electrophoretic mobility of this allele is similar to that of the PGI3 allele found in Indian populations, but unlike the Indian allele, it has a very low specific activity and heat stability. This PGI3 allele, designated PGI3 (Israel), seems to be a different unstable mutation and along with AK and G6PD deficiencies seems to be associated with severe anaemia.

摘要

在一个先前已报道存在腺苷酸激酶(AK)和葡萄糖6 - 磷酸脱氢酶(G6PD)遗传性缺陷的以色列阿拉伯家庭中,对磷酸葡萄糖异构酶(PGI)及其他16种生化遗传标记进行了研究。在这个近亲家庭中,在32名受测成员中的11名中观察到一种罕见的PGI3等位基因,表明其为常染色体共显性遗传。该等位基因的电泳迁移率与在印度人群中发现的PGI3等位基因相似,但与印度等位基因不同的是,它具有非常低的比活性和热稳定性。这种PGI3等位基因,命名为PGI3(以色列),似乎是一种不同的不稳定突变,并且与AK和G6PD缺陷一起似乎与严重贫血有关。

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