title: [A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia].
abstract: OBJECTIVE
  To investigate low density lipoprotein receptor(LDLR) gene mutations in Chinese with familial hyperchol-esterolemia(FH).
  
  
  METHODS
  Genomic DNA was extracted from five unrelated children with clinical diagnosis of homozygous FH, together with their family members. Promoter and all of the 18 exons of LDLR gene were amplified by polymerase chain reaction (PCR) and were analyzed by single strand conformation polymorphism (SSCP). The PCR products of abnormal patterns shown by SSCP were sequenced directly.
  
  
  RESULTS
  Two point mutations (A606T, C263R) were found in two families respectively. The two mutations were only found in China, and C263R is a novel mutation.
  
  
  CONCLUSIONS
  The two mutations of LDLR gene are the cause of FH and there may be LDLR gene mutations only carried by FH patients in China.
authors.affiliation: Department of Pathology, Medical Health Center, Peking University, Beijing 100083 P.R.China. dqw21@yahoo.com.cn
authors.forename: D
authors.initials: D
authors.lastname: Wang
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: Y
authors.initials: Y
authors.lastname: Mu
authors.forename: Q
authors.initials: Q
authors.lastname: Gao
authors.forename: W
authors.initials: W
authors.lastname: Heng
authors.forename: H
authors.initials: H
authors.lastname: Zhong
authors.forename: J
authors.initials: J
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002681:China; D015342:DNA Probes; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D015342:DNA Probes; D011973:Receptors, LDL