title: [Gene distribution characteristics of deletional α-thalassemia in Guangxi region].
abstract: OBJECTIVE
  To analyze the detection rate and gene distribution characteristic of deletional α-thalassemia in Guangxi area, and to provide theoretic basis for thalassemia gene diagnosis and genetic counseling.
  
  
  METHODS
  The regular gene diagnosis of 3 types of α-thal (-- (SEA),- α(3.7),- α(4.2)) was performed by gap-PCR, multiple ligation probe and gene sequencing for globin α or β were used to detect those samples whose genotype and phenotype were not consistent. And the distribution characteristic of α-thalassemia gene in Guangxi area was then analyzed.
  
  
  RESULTS
  Out of 51 191 suspected thalassemia patients, there were 19 853 cases of deletional a-thalassemia, accounted for 39.9% in total positive rate, including 19 780 cases of regular types(--(SEA), - α(3.7), - α(4.2)), 61 cases of Thailand-type deletion, 9 cases of triplet type (Hong Kong) (ααα(HK)), 1 case of 21.9 kb deletion type and 2 cases of 809 bp deletion type.
  
  
  CONCLUSIONS
  Types of deletional a-thalassemia were complex and accounted for large proportion in Guangxi area. Special gene diagnoses were needed for those couples whose genotype and phenotype were not consistent, in order to provide reliable basis for genetic counseling and prenatal diagnosis.
authors.affiliation: The Maternal and Child Care Service Centre of Guangxi Zhuang Autonomous Region, Nanning 530011, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: The Maternal and Child Care Service Centre of Guangxi Zhuang Autonomous Region, Nanning 530011, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Fan
authors.affiliation: The Maternal and Child Care Service Centre of Guangxi Zhuang Autonomous Region, Nanning 530011, China.
authors.forename: Sheng
authors.initials: S
authors.lastname: He
authors.affiliation: The Maternal and Child Care Service Centre of Guangxi Zhuang Autonomous Region, Nanning 530011, China.
authors.forename: Chunyun
authors.initials: C
authors.lastname: Fu
authors.affiliation: The Maternal and Child Care Service Centre of Guangxi Zhuang Autonomous Region, Nanning 530011, China.
authors.forename: Yanqing
authors.initials: Y
authors.lastname: Tang
authors.affiliation: The Maternal and Child Care Service Centre of Guangxi Zhuang Autonomous Region, Nanning 530011, China.
authors.forename: Qiuli
authors.initials: Q
authors.lastname: Chen
authors.affiliation: The Maternal and Child Care Service Centre of Guangxi Zhuang Autonomous Region, Nanning 530011, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wei
authors.affiliation: The Maternal and Child Care Service Centre of Guangxi Zhuang Autonomous Region, Nanning 530011, China.
authors.forename: Chenguang
authors.initials: C
authors.lastname: Zheng
mesh_terms: D002681:China; D005838:Genotype; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*