title: Detection of a novel large deletion causing α-thalassemia in South China.
abstract: α-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. α-Thalassemia is more frequently caused by deletional type than non-deletional type. Recently, we identified a novel large deletional type of α-thalassemia named --(FZ)/αα 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.
authors.affiliation: Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. jiaxy@hotmail.com
authors.forename: Xingyuan
authors.initials: X
authors.lastname: Jia
authors.forename: Rui
authors.initials: R
authors.lastname: Huang
authors.forename: Zhen
authors.initials: Z
authors.lastname: Lei
authors.forename: Limei
authors.initials: L
authors.lastname: Yao
authors.forename: Lirong
authors.initials: L
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Li
authors.forename: Dahua
authors.initials: D
authors.lastname: Meng
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Jingzhong
authors.initials: J
authors.lastname: Liu
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D060466:Axin Protein / Q000235:genetics; D002681:China; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: C555451:AXIN1 protein, human; D060466:Axin Protein; D055542:alpha-Globins
keywords: Deletion; Molecular diagnosis; Multiplex ligation-dependent probe amplification; Real-time PCR; α-Thalassemia; α-globin gene