目的提高经典型苯丙酮尿症的产前诊断的成功率。方法在苯丙氨酸羟化酶（phenylalanine hydroxylase，PAH）基因附近选择了3个新的短串联重复序列（short tandem repeat，STR）位点（PAH26、PAH32和PAH9），进行扩增长度片段多态性分析...
详细信息
目的提高经典型苯丙酮尿症的产前诊断的成功率。方法在苯丙氨酸羟化酶（phenylalanine hydroxylase，PAH）基因附近选择了3个新的短串联重复序列（short tandem repeat，STR）位点（PAH26、PAH32和PAH9），进行扩增长度片段多态性分析，确定它们在中国人群的分布及在诊断中的应用价值。结果3个新的STR位点的多态信息含量分别为0．518（PAH26）、0．413（PAH32）和0．362（PAH9）。这3个位点之间，PAH9与第3内含子中的STR位点（TCTA）n之间存在连锁不平衡，其他位点组合不存在连锁不平衡。联合第3内含子中的STR位点（TCTA）n和2个新的位点，可以对家系中突变基因标记进行95％N断，并成功地用于4例产前诊断中。结论选择性地应用PAH基因中的3个STR位点组合，可以95％地区分经典型苯丙酮尿症家系中父母的两个基因，从而准确地进行快速产前诊断。
As the completion of human genome project, application of the knowledge and techniques developed during thpast decade to the medical practice become more and more important and gain more and more attention. It is wort...
详细信息
As the completion of human genome project, application of the knowledge and techniques developed during thpast decade to the medical practice become more and more important and gain more and more attention. It is worthwhile to look back to the step prints of the development of medical genetics in China.1 The sprout of genetics in ChinaIt should be mentioned fromthe very beginning of the birth of the genetics in China to understand the historymedical genetics in China. In 1922, *** (Zhen CHEN) opened genetic courses in National Southeast Unversity after he returned from the ***’s lab at Columbia University. He used Goldfish as a model fogenetic study. The Chinese scholars started their work on human genetics by survey the frequency of ABO bloogroup in the Chinese. Their result was published in1918. This was the first data of gene frequency of Chinese population, followed by reports on the inherited disease in Chinese on the frequency of color blindness in 1937. I1948, T. C. HSU described the ability to fold up the tip of the tongue as a recessive trait (MIM189300)[1,2]*** (Ching Chun LI) wrote a book,Introduction to Population Genetics, which became a wellknown book ithe world and from which a whole generation of geneticists benefited.
暂无评论