가족성 고콜레스테롤혈증 유전자 진단에서 저밀도지단백 수용체 유전자 및 인접 유전 표식자의 유용성

Background : Familial hypercholesterolemia(FH) is an autosomal dominant metabolic disorder caused by the mutation in low density lipoprotein receptor(LDLR) gene. However, direct genetic diagnosis of LDLR gene mutation is not easily available because more than 300 mutations have been described in LDL...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:The Korean journal of medicine 2000-03, Vol.58 (3), p.283
Hauptverfasser: 최병주, Byoung Joo Choi, 박현영, Hyun Young Park, 김건영, Geon Young Kim, 남상민, Sang Min Nm, 조승연, Seung Yun Cho, 장양수, Yang Soo Jang
Format: Artikel
Sprache:kor
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Background : Familial hypercholesterolemia(FH) is an autosomal dominant metabolic disorder caused by the mutation in low density lipoprotein receptor(LDLR) gene. However, direct genetic diagnosis of LDLR gene mutation is not easily available because more than 300 mutations have been described in LDLR gene of FH patients. Therefore indirect genetic diagnosis using the genetic markers can be used to follow the inheritance of defective gene in FH families. The purpose of this study was to evaluate the usefulness of indirect genetic markers for detecting identical-by-descent LDLR gene abnormalities in FH families. Methods : We examined the allele frequency, heterozygosity, polymorphism information content(PIC) of each genetic markers(D19S394, Taq I, Hinc II, Ava II, ATn, D19S221) in 94 unrelated healthy subjects. The genetic polymorphic haplotypes in 3 FH families were also determined. Results : The heterozygosity and PIC values of RFLP's(Taq I, Hinc II, Ava II) were 0.51/0.344, 0.25/0.223, 0.28/0.233 and microsatellite markers(D19S394, ATn, D19S221) were 0.64/0.558, 0.56/0.455, 0.60/0.475. Hinc II and Ava II were significantly linked(|D|=0.72, p
ISSN:1738-9364