AIM: To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics. METHODS: Mutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WD patients of Han ethnic origin. RESULTS: Two novel mutations, Asp96Gly and Asp196Glu, were first identified. We also compared the characterization of mutations in ATP7B with the clinical findings, and a significant correlation with hepatic manifestations between patients carrying the Arg778Leu mutation and those without was found. CONCLUSION: Gene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WD patients.
AIM: To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics. METHODS: Mutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WDpatients of Han ethnic origin. RESULTS: Two novel mutations, Asp96Gly and Asp196Glu, were first identified. We also compared the characterization of mutations in ATP7B with the clinical findings, and a significant correlation with hepatic manifestations between patients carrying the Arg778Leu mutation and those without was found. CONCLUSION: Gene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WDpatients.
Authors: A B Shah; I Chernov; H T Zhang; B M Ross; K Das; S Lutsenko; E Parano; L Pavone; O Evgrafov; I A Ivanova-Smolenskaya; G Annerén; K Westermark; F H Urrutia; G K Penchaszadeh; I Sternlieb; I H Scheinberg; T C Gilliam; K Petrukhin Journal: Am J Hum Genet Date: 1997-08 Impact factor: 11.025
Authors: S Santhosh; R V Shaji; C E Eapen; V Jayanthi; S Malathi; P Finny; N Thomas; M Chandy; G Kurian; G M Chandy Journal: World J Gastroenterol Date: 2008-08-07 Impact factor: 5.742