印度西部的β地中海贫血突变
Beta-thalassemia mutations in western India.
作者信息
Sheth J J, Sheth F J, Pandya Pooja, Priya Rashi, Davla Sejal, Thakur Chitra, Flavin Vaz
机构信息
FRIGE Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.
出版信息
Indian J Pediatr. 2008 Jun;75(6):567-70. doi: 10.1007/s12098-008-0109-3. Epub 2008 Aug 31.
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.
目的
研究古吉拉特邦人群中常见突变的发生情况以及某些高危社区中最普遍的突变。
方法
对β地中海贫血患儿采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）进行突变筛查。
结果
人群筛查发现，信德人、洛哈纳人、拉杰普特人以及表列种姓/表列部落/其他落后阶层等特定社区相较于其他社区风险更高。在古吉拉特邦的所有病例中，最常见的突变是IVS 1-5（G→C），其次是619 bp缺失。
结论
对于那些种族表明来自高危社区的家庭，应考虑进行地中海贫血的分子评估。
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