FILIPINO BETA-THALASSEMIA DUE TO A LARGE DELETION - IDENTIFICATION OF THE DELETION END-POINTS AND POLYMERASE CHAIN-REACTION (PCR)-BASED DIAGNOSIS

被引：0
|
作者：
WAYE, JS
ENG, B
HUNT, JA
CHUI, DHK
机构：
[1] MCMASTER UNIV,MED CTR,PROV HEMOGLOBINOPATHY DNA DIAGNOST LAB,HAMILTON L8N 3Z5,ON,CANADA
[2] UNIV HAWAII,DEPT GENET,HONOLULU,HI 96822
来源：
HUMAN GENETICS | 1994年 / 94卷 / 05期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin gene, and extends 3' beyond the beta-globin gene. In this report, we identify the 5' and 3' deletion endpoints and present a polymerase chain reaction (PCR) strategy for rapid DNA diagnosis of the Filipino beta-thalassemia deletion.
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页码：530 / 532
页数：3
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