title: Carrier detection and presymptomatic identification of Wilson disease in Chinese by non-isotopic linkage analysis with four short tandem repeat polymorphisms.
abstract: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. To establish an efficient, accurate and fast diagnostic method for carrier detection and presymptomatic identification of WD in Chinese population, we studied haplotypes of short tandem repeat (STR) polymorphisms flanking the WD gene in 40 Chinese WD families. The results suggested that this genetic diagnosis system based on the four STR polymorphisms is of high value for the detection of potential carriers and WD homozygotes in families with at least one previously affected child. It is an efficient, accurate and fast diagnostic method that can be well suited for routine use in clinical laboratories.
authors.affiliation: Institute of Neurological Sciences, Department of Neurology, First Affiliated Hospital of Fujian Medical University, Fujian 350005.
authors.forename: Z
authors.initials: Z
authors.lastname: Wu
authors.forename: N
authors.initials: N
authors.lastname: Wang
authors.forename: S
authors.initials: S
authors.lastname: Murong
authors.forename: X
authors.initials: X
authors.lastname: Ruan
mesh_terms: D044466:Asian People; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005819:Genetic Markers; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences
chemical_list: D005819:Genetic Markers