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血红蛋白E 萨斯卡通型,在设得兰群岛β链第22位谷氨酸被赖氨酸取代。

Haemoglobin E Saskatoon beta 22 Glu replaced by Lys in the Shetland Islands.

作者信息

Welch S G

出版信息

J Med Genet. 1976 Dec;13(6):477-8. doi: 10.1136/jmg.13.6.477.

Abstract

A survey of blood samples from the inhabitants of the Shetland Islands has revealed the presence of a variant haemoglobin in 1 individual out of the 345 tested. The rariant haemoglobin accounted for 46% of the total haemoglobin. Tryptic digestion and amino acid analysis indicated that the variant haemoglobin was caused by the substitution of a glutamic acid residue at position 22 in the beta chain by a lysine residue. This is the same amino acid substituion as found in haemoglobin E Saskatoon.

摘要

对设得兰群岛居民血液样本的一项调查显示,在345名接受检测者中,有1人存在一种变异血红蛋白。这种变异血红蛋白占总血红蛋白的46%。胰蛋白酶消化和氨基酸分析表明,该变异血红蛋白是由β链第22位的谷氨酸残基被赖氨酸残基取代所致。这与在血红蛋白E萨斯卡通中发现的氨基酸取代相同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e9d2/1013474/5333df072358/jmedgene00313-0061-a.jpg

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