Studies ofβ-Thalassemia Mutations in Families Living in Three Provinces in Southern China
作者:
LiuJ. Z.,
GaoQ. S.,
JiangZ.,
LiangC. C.,
YangK. G.,
WuG. Y.,
LongG. F.,
LiQ.,
ZhangJ.,
DengB.,
WangR. X.,
期刊:
Hemoglobin
(Taylor Available online 1989)
卷期:
Volume 13,
issue 6
页码: 585-595
ISSN:0363-0269
年代: 1989
DOI:10.3109/03630268908993109
出版商: Taylor&Francis
数据来源: Taylor
摘要:
β-Thalassemia is a common disease in Southern China and 10 different mutations or frameshifts are responsible for most types ofβ-thalassemia in this area. We studied 126 chromosomes of 80β-thalassemia patients from the Guangxi, Guangdong, and Sichuan Provinces using the polymerase chain reaction followed by dot-blot hybridization with specific oligonucleotide probes. The most common mutation in the three provinces is the frameshift at codons 41-42, followed by the A→T mutation at codon 17. The A→G mutation at nt -29 of the promoter is common in Sichuan but not in the other two provinces. Three mutations (T→C at nt -30; G→T at IVS-I-1, and G→C at IVS-I-5) were not observed. These data were used to initiate a prenatal diagnosis program using the same techniques for identification. Eleven fetuses at risk forβ-thalassemia have been diagnosed.
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