中国的血红蛋白疾病。
Disorders of haemoglobin in China.
作者信息
Zeng Y T, Huang S Z
机构信息
Laboratory of Medical Genetics, Shanghai Children's Hospital, China.
出版信息
J Med Genet. 1987 Oct;24(10):578-83. doi: 10.1136/jmg.24.10.578.
Abstract
A large scale survey of haemoglobinopathies and thalassaemia has been carried out in China, involving 900,000 people in 28 provinces. It has resulted in the finding of many new variants and some interesting cases of thalassaemia, and in a study on the chemical structure of abnormal haemoglobins and DNA analysis of thalassaemia. We report here data on haemoglobin disorders in the Chinese, mainly the characterisation of the geographical distribution of haemoglobin variants, the analysis of globin genes of alpha, beta, gamma, or delta beta thalassaemia, and the progress in prenatal diagnosis of alpha and beta thalassaemia conducted in the authors' laboratory.
摘要
在中国开展了一项关于血红蛋白病和地中海贫血的大规模调查，涉及28个省份的90万人。此次调查发现了许多新的变异型和一些有趣的地中海贫血病例，并对异常血红蛋白的化学结构和地中海贫血进行了DNA分析。我们在此报告中国人血红蛋白疾病的数据，主要包括血红蛋白变异型地理分布特征、α、β、γ或δβ地中海贫血珠蛋白基因分析，以及作者实验室在α和β地中海贫血产前诊断方面取得的进展。
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本文引用的文献
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beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.中国的β地中海贫血：体内RNA分析和寡核苷酸杂交在分子缺陷系统表征中的应用
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