Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.
The MYH gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the MYH gene have been identified that lend themselves to rapid screening. We have examined a series of 302 individuals comprising 120 control subjects, 120 patients diagnosed with adenomatous polyposis but without germline mutations in the APC gene and 62 patients diagnosed with familial adenomatous polyposis all harbouring confirmed causative APC germline mutations. The results reveal that MYH accounts for 16 percent of polyposis patients without germline mutations in the APC gene and that it does not appear to be a modifier gene in FAP patients diagnosed with APC germline mutations.
Kairupan
Carla F
CF
Discipline of Medical Genetics, School of Biomedical Sciences, Faculty of Health, University of Newcastle and the Hunter Medical Research Institute, Newcastle, Australia.
Meldrum
Cliff J
CJ
Crooks
Renee
R
Milward
Elizabeth A
EA
Spigelman
Allan D
AD
Burgess
Bronwyn
B
Groombridge
Claire
C
Kirk
Judy
J
Tucker
Kathy
K
Ward
Robyn
R
Williams
Rachel
R
Scott
Rodney J
RJ
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D000368:Aged; D001315:Australia / Q000453:epidemiology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D017491:Genes, APC; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged