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海口地区89例α-地中海贫血基因型的研究

刘秀莲 王洁 赵振东 温英梅

生命科学研究2012,Vol.16Issue(5):420-422,3.
生命科学研究2012,Vol.16Issue(5):420-422,3.

海口地区89例α-地中海贫血基因型的研究

Study on Genotypes in 89 Patients of α-thalassemia in Haikou Area

刘秀莲 1王洁 1赵振东 1温英梅1

作者信息

  • 1. 海南省妇幼保健院,中国 海南 海口 570206
  • 折叠

摘要

Abstract

To investigate the genotypes and incidence of α-thalassemia in Haikou area, polymerase chain reaction (PCR) was used to detect 319 patients' DNA samples. The results showed that 89 cases of α-thalassemia were detected in 319 patients, the positive rate was 27.90%. Eight genotypes were found, including --SEA/aa (33 cases), -α3.7/αα (18 cases), -α3.7/-α3.1 (3 cases), -α42/α3.7 (21 cases), -α4.2/-α4.2 (6 cases), -α3.7/-α4.2 (5 cases), -α3.7/--SEA (1 case) and -α4.2/--SEA (2 cases), and the South-East Asian (SEA) deletion genotype was thought to account for the majority of cases of a-thalassemia. More attention should be paid to the genetic screening and prenatal diagnosis of a-thalassemia in Haikou area. Prenatal diagnosis is the best effective measurement to prevent severe α-thalassemia fetus to be born.

关键词

α-地中海贫血/基因诊断/基因型

Key words

α-thalassemia/genetic diagnosis/genotype

分类

医药卫生

引用本文复制引用

刘秀莲,王洁,赵振东,温英梅..海口地区89例α-地中海贫血基因型的研究[J].生命科学研究,2012,16(5):420-422,3.

生命科学研究

OA北大核心CSCDCSTPCD

1007-7847

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