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


CONCLUSIONS
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.
Zhu
D
D
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.
Chen
Z
Z
Chen
B
B
Lu
Z
Z
Lu
X
X
Kou
W
W
Xu
Y
Y
Sun
G
G
Zeng
W
W
Yang
Y
Y
Chen
J
J
Gao
R
R
Du
H
H
Ma
X
X
Xu
H
H
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational