HB-MIZUHO OR ALPHA-2-BETA-268(E12)LEU-]PRO IN A CAUCASIAN BOY WITH HIGH-LEVELS OF HB-F - IDENTIFICATION BY SEQUENCING OF AMPLIFIED DNA

被引：11

作者：

KEELING, MM ^{[1
]}

BERTOLONE, SJ ^{[1
]}

BAYSAL, E ^{[1
]}

GU, YC ^{[1
]}

CEPREGANOVA, B ^{[1
]}

WILSON, JB ^{[1
]}

HUISMAN, THJ ^{[1
]}

机构：

[1] MED COLL GEORGIA, DEPT BIOCHEM & MOLEC BIOL, PROT CHEM LAB, AUGUSTA, GA 30912 USA

来源：

HEMOGLOBIN | 1991年 / 15卷 / 06期

关键词：

D O I：

10.3109/03630269109027895

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Hb Mizuho, an unstable beta-chain variant with a Leu --> Pro substitution at position beta-68, was observed in a young Caucasian boy from Kentucky. Identification was made by sequence analyses of amplified DNA and by hybridization of amplified DNA with specific probes. The patient had high Hb F levels up to the present age of nearly 5 years; this high Hb F might in part be responsible for his condition which was considerably milder than that seen in the two patients described in earlier reports. The increased gamma-chain synthesis may be due to special characteristics of the beta-globin gene cistron which are comparable to those observed in sickle cell anemia patients with a relatively mild disease.

引用

页码：477 / 485

页数：9

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