印度人群中新型和罕见β地中海贫血突变的血液学和分子分析。
Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.
作者信息
Nadkarni Anita, Gorakshakar Ajit, Surve Reema, Sawant Pratibha, Phanasgaonkar Supriya, Nair Sona, Ghosh Kanjaksha, Colah Roshan B
机构信息
National Institute of Immunohaematology, Indian Council of Medical Research, King Edward Memorial Hospital Campus, Mumbai, India.
出版信息
Hemoglobin. 2009;33(1):59-65. doi: 10.1080/03630260802626012.
A variety of mutations causing beta-thalassemia (beta-thal) have been seen in the Indian subcontinent. We report eight families in whom two novel mutations [codon 16 (C>T), IVS-II-613 (C>T)] and three rare mutations [codons 22/23/24 (-7 bp) (-AAGTTGG), -87 (C>A), codon 15 (-T)] were encountered among 375 beta-thal heterozygotes. They were referred to us for molecular characterization or prenatal diagnosis during a period of 2 years. Haplotyping was also done for linkage analysis.
在印度次大陆已发现多种导致β地中海贫血（β-地贫）的突变。我们报告了8个家系，在375名β-地贫杂合子中发现了两种新突变[密码子16（C>T），IVS-II-613（C>T）]和三种罕见突变[密码子22/23/24（-7bp）（-AAGTTGG），-87（C>A），密码子15（-T）]。在两年时间里，他们被转诊至我们这里进行分子特征分析或产前诊断。还进行了单倍型分析以进行连锁分析。
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