Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome.
- Author:
Wei-hong XIE
1
;
Guo-xin REN
;
Sheng-jiao LI
;
Jing ZHANG
;
Wei HUANG
;
Wei GUO
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Basal Cell Nevus Syndrome; genetics; Female; Genetic Linkage; Humans; Male; Mutation; Patched Receptors; Patched-1 Receptor; Pedigree; Receptors, Cell Surface; genetics
- From: Chinese Journal of Stomatology 2006;41(10):596-598
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the molecular genetic etiology of a Chinese pedigree with basal cell nevus syndrome.
METHODSThe proband and his affected mother and a unaffected individual in the pedigree were chosen and peripheral blood was collected from them for DNA. Direct sequencing was performed to detect the mutations of PTCH gene. In order to further confirm the results of sequence analysis, all available family members were analyzed with genetic linkage analysis using 3 highly polymorphic microsatellite DNA markers in the region of 9q22.3-q31.
RESULTSNo mutations of PTCH gene was detected in the proband's mother, one synonymous mutation was detected in the proband. Linkage analysis showed that the Lod scores of the 3 markers were: D9S283, Z = -2.11 (theta = 0.00); D9S1690, Z = -2.95 (theta = 0.00); D9S1677, Z = -5.94 (theta = 0.00).
CONCLUSIONSIn this pedigree, mutation of PTCH gene is not related to the underlying pathogenesis of the syndrome.
