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δ链变异型血红蛋白A2'(HbB2)(δ16甘氨酸→精氨酸)纯合子。

Homozygosity for the delta-chain variant haemoglobin A2' (HbB2) (delta 16 Gly----Arg).

作者信息

Lehmann H, Jenkins T, Plowman D, Nurse G T

出版信息

Hemoglobin. 1985;9(4):363-72. doi: 10.3109/03630268508997011.

Abstract

A healthy 20-year-old woman, belonging to the Kgalagadi tribe of Botswana, has been found to possess a variant Haemoglobin A2 as her only minor haemoglobin component. Fingerprinting and amino-acid analysis have shown that it is Haemoglobin A2' (delta 16 Gly----Arg). The one parent available for study is heterozygous for the Hb delta A2' allele and the variant haemoglobin accounts for 3% of the total haemoglobin in the proband. It is reasoned that the proband is, therefore, homozygous for the Hb delta A2' allele. No haematological abnormalities were evident.

摘要

一名健康的20岁女性,属于博茨瓦纳的卡拉哈迪部落,被发现仅有一种变异血红蛋白A2作为其微量血红蛋白成分。指纹图谱和氨基酸分析表明它是血红蛋白A2'(δ16甘氨酸→精氨酸)。可供研究的一位亲本对HbδA2'等位基因是杂合的,且该变异血红蛋白占先证者总血红蛋白的3%。因此推断先证者对HbδA2'等位基因是纯合的。未发现血液学异常。

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