[Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome].
OBJECTIVE
To study the molecular genetic etiology of a Chinese pedigree with basal cell nevus syndrome.


METHODS
The 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.


RESULTS
No 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).


CONCLUSIONS
In this pedigree, mutation of PTCH gene is not related to the underlying pathogenesis of the syndrome.
Xie
Wei-hong
WH
Department of Oral and Maxillofacial Surgery, School of Stomatology, Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200011, China.
Ren
Guo-xin
GX
Li
Sheng-jiao
SJ
Zhang
Jing
J
Huang
Wei
W
Guo
Wei
W
D044466:Asian People / Q000235:genetics; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface