Hb Q-Thailand [α74(EF3)Asp→His]: Gene Organization, Molecular Structure, and DNA Diagnosis
作者:
ZengF. Y.,
FucharoenS.,
HuangS Z,
RodgersG. P.,
期刊:
Hemoglobin
(Taylor Available online 1992)
卷期:
Volume 16,
issue 6
页码: 481-491
ISSN:0363-0269
年代: 1992
DOI:10.3109/03630269208993116
出版商: Taylor&Francis
数据来源: Taylor
摘要:
Hb Q-Thailand [α74(EF3)Asp→His] is often found in Thailand, China, and other Southeast Asian countries. Theα-Q-Thailand gene is strongly linked to anαgene deletion and has important implications in the identification and diagnosis of hemoglobinopathies and thalassemias. Theα-Q-Thailand mutation was previously mapped to theα1 gene in a study of Chinese patients. in this paper, a Thai patient with Hb Q-Thailand/Hb H disease and his mother were studied at the DNA level, and the gene organization of Hb Q-Thailand in the Thai patient was found to be the same as that of Chinese patients (i.e. the Hb Q-Thailand gene is located on the a1 gene of chromosome #16, while the -4.2 kb or leftward deletion involves theα2 gene). Also, theGACćcmutation proposed at codon 74, has been confirmed by DNA sequencing and a simple and accurate method for diagnosis of the Hb Q-Thailand variant has been developed based on restriction enzyme analysis. Since theGACĆCmutation generates new cutting sites for both restriction enzymes Apa LI and Hgi AI, polymerase chain reaction amplification of a specific region around codon 74, followed by digestion with these enzymes and agarose gel electrophoresis of the digested products, permits rapid and accurate identification of Hb Q-Thailand.
点击下载:
PDF (975KB)
返 回