Detection of a novel large deletion causing ¦Á-thalassemia in South China

详细信息    查看全文

• 作者：Xingyuan Jia ; Rui Huang ; Zhen Lei ; Limei Yao ; Lirong Wang ; Ying Li ; Dahua Meng ; Yan Zhou ; Jingzhong Liu ; Xue Zhang
• 关键词：¦Á-Thalassemia ; ¦Á-globin gene ; Deletion ; Multiplex ligation-dependent probe amplification ; Real-time PCR ; Molecular diagnosis
• 刊名：Experimental and Molecular Pathology
• 出版年：2013
• 出版时间：August, 2013
• 年：2013
• 卷：95
• 期：1
• 页码：68-73
• 全文大小：767 K

文摘

¦Á-Thalassemia is an inherited autosomal recessive disorder. It is one of the most common monogenic abnormalities known in the world and is prevalent in tropical and subtropical regions. ¦Á-Thalassemia is more frequently caused by deletional type than non-deletional type. Recently, we identified a novel large deletional type of ¦Á-thalassemia named --^FZ/¦Á¦Á from a family in South China. Multiplex ligation-dependent probe amplification was used for diagnosing the carrier and prenatal diagnosing for a fetus. Real-time PCR was employed for characterizing the deletion breakpoints and the deletional segment was determined as 300 kb in length extending from the telomere to AXIN1 gene on the short arm of chromosome 16. The carriers in the family members were detected by real-time PCR using designed primers.