染色体单倍型分析及突变分析在肝豆状核变性诊断中的临床应用
[Clinical application of chromosome haplotype analysis and mutation analysis to the diagnosis of Wilson's disease].
作者信息
Shi X, Ling Q, Xia J, Wu H
机构信息
The National Medical Genetics Laboratory, Hunan Medical University, Changsha, Hunan,410078 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Feb 10;16(1):32-5.
OBJECTIVE
To set up the method of gene diagnosis of Wilson's disease (WD) by chromosome haplotype analysis and mutation detection.
METHODS
This study selected 3 (CA)n repeat genetic markers,D13S316, D13S133 and D13S314 to construct the chromosome haplotype within 8 Han WD families. PCR-SSCP was used to reconfirm the diagnosis of the siblings of the probands in the families where in the disease-causing mutation had been detected.
RESULTS
One asymptomatic WD patient and 5 heterozygotes were detected.
CONCLUSION
In the WD families, the analysis of chromosome haplotype helps to make the diagnosis of siblings of the probands;for the WD families in which the disease-causing mutation has been ascertained, mutation analysis can provide direct and definite evidence for diagnosis. The combination of these two methods can provide more evidences for diagnosis.
目的
通过染色体单倍型分析和突变检测建立肝豆状核变性（WD）的基因诊断方法。
方法
本研究选取3个（CA）n重复遗传标记D13S316、D13S133和D13S314，在8个汉族WD家系中构建染色体单倍型。采用PCR-SSCP对已检测到致病突变的家系中先证者的同胞进行诊断复核。
结果
检测到1例无症状WD患者和5例杂合子。
结论
在WD家系中，染色体单倍型分析有助于对先证者的同胞进行诊断；对于已确定致病突变的WD家系，突变分析可为诊断提供直接确切的证据。这两种方法联合应用可为诊断提供更多证据。
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