β-thalassemia mutations in western India

被引：11

作者：

Sheth, J. J. ^{[1
]}

Sheth, F. J. ^{[1
]}

Pandya, Pooja ^{[1
]}

Priya, Rashi ^{[1
]}

Davla, Sejal ^{[1
]}

Thakur, Chitra ^{[2
]}

Flavin, Vaz ^{[2
]}

机构：

[1] FRIGE Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, India

[2] Wadia Children Hosp, Bombay, Maharashtra, India

来源：

INDIAN JOURNAL OF PEDIATRICS | 2008年 / 75卷 / 06期

关键词：

beta-thalassaemia; mutation; ARMS-PCR; prenatal diagnosis;

D O I：

10.1007/s12098-008-0109-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Objective. To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities. Methods. The mutation screening was carried out using ARMS-PCR in children with beta thalassemia. Results. Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G -> C) followed by 619 bp deletions of the total cases coming to Gujarat. Conclusion. Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.

引用

页码：567 / 570

页数：4

共 12 条

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