Using fluorescence PCR analysis for early diagnosis and carriers detection of Chinese Wilson's disease
10.3760/j.issn:1003-9406.2001.01.006
- VernacularTitle:用荧光PCR对中国人肝豆状核变性进行早期诊断及携带者检测
- Author:
Fan HUANG
1
;
Xiuling LIANG
;
Pinyi XU
;
Zheng LIN
;
Gang CHENG
;
Xiangping ZHOU
;
Ying WANG
;
Guoqing HOU
Author Information
1. 中山医科大学附属第一医院
- From:
Chinese Journal of Medical Genetics
2001;18(1):17-20
- CountryChina
- Language:Chinese
-
Abstract:
Objective To diagnose the pre-symptomatic cases of Chinese Wilson's disease(WD) and detect the potential carriers by using fluorescence PCR technique. Methods Screening the high frequency spot Arg778Leu of WD gene mutation in 66 Chinese WD patients, 55 healthy family members and 30 controls, and selecting 3 random samples (2 from WD patients, 1 from controls) for DNA sequencing to testify the accuracy of fluorescence PCR. Results Among 66 Chinese WD cases, 5 were found homozygous for mutation of Arg778Leu and 21 were compound heterozygous; the gene mutation rate was totally 39.4%.Out of 55 healthy family members, 12 were found heterozygous, and it was confirmed that 11 of these 12 individuals were WD gene carriers but not pre-symptomatic patients. The results of direct DNA sequencing consisted with those results detected by fluorescence PCR. Conclusion The Arg778Leu mutation in exon 8 is the high frequency spot of Chinese Wilson's disease gene. Fluorescence PCR analysis is a rapid, accurate gene diagnostic method and demonstrates a high detecting rate.
