HB GRAZ OR ALPHA-2-BETA-22(NA2)HIS-]LEU - A NEW BETA-CHAIN VARIANT OBSERVED IN 4 FAMILIES FROM SOUTHERN AUSTRIA

被引:18
作者
LIU, JS
MOLCHANOVA, TP
GU, LH
WILSON, JB
HOPMEIER, P
SCHNEDL, W
BALAUN, E
KREJS, GJ
HUISMAN, THJ
机构
[1] KRANKENANSTALT RUDOLFSTIFTUNG WIEN,CENT LAB,A-1030 VIENNA,AUSTRIA
[2] GRAZ UNIV,DEPT MED,A-8036 GRAZ,AUSTRIA
关键词
D O I
10.3109/03630269208993117
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
Two abnormal hemoglobins were accidentally detected by cation exchange high performance liquid chromatography with the Diamat system of Bio-Rad Laboratories; the variants eluted together with the fast-moving Hb A1c. Structural analysis of isolated beta chains and sequence analysis of amplified DNA identified a new variant, i.e. Hb Graz that has a His-->Leu replacement at position 2 of the beta chain, in four healthy, apparently unrelated, adults. The second variant was identical to Hb Sherwood Forest or alpha2beta(2)104(G6)Arg-->Thr; it is believed that this may be the second observation of this abnormal hemoglobin.
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页码:493 / 501
页数:9
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