[The application of polymerase chain reaction-single strain conformation polymorphism in the pedigree analysis of familial hypercholerolemia patients]

D Zhu; Z Chen; B Chen; Z Lu; X Lu; W Kou; Y Xu; G Sun; W Zeng; Y Yang; J Chen; R Gao; H Du; X Ma; H Xu

[The application of polymerase chain reaction-single strain conformation polymorphism in the pedigree analysis of familial hypercholerolemia patients]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Apr;17(2):108-11.

[Article in Chinese]

Authors

D Zhu¹, Z Chen, B Chen, Z Lu, X Lu, W Kou, Y Xu, G Sun, W Zeng, Y Yang, J Chen, R Gao, H Du, X Ma, H Xu

Affiliation

¹ Department of Coronary Heart Disease, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037 P.R. China.

PMID: 10751533

Abstract

Objective: To discuss the value of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) in the pedigree analysis of familial hypercholesterolemia(FH) patients.

Methods: For 4 patients with FH detected by PCR-SSCP and DNA sequence analysis (1 homozygote has point mutation in exon 7, 1 heterozygote in exon 14, and 2 heterozygotes in 3' part of exon 4 ), members of each pedigree, altogether 23 individuals, were analysed using PCR-SSCP.

Results: Every member of the 4 pedigrees was examined genetically. Besides the 4 probands, another 1 homozygote and 8 heterozygotes were found.

Conclusion: The PCR-SSCP method can be used in the pedigree analysis of FH probands. The early diagnosis of siblings and relatives can help to provide genetic consultation and direction so as to pay attention to development of hypercholesterolemia.

Publication types

English Abstract
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Child
Child, Preschool
Female
Humans
Hyperlipoproteinemia Type II / genetics*
Male
Middle Aged
Pedigree*
Polymerase Chain Reaction*
Polymorphism, Single-Stranded Conformational*