Mutation screening of MLH1 and MSH2 genes in two Chinese families with hereditary nonpolyposis colorectal cancer / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 221-224, 2008.
Article
in Chinese
| WPRIM
| ID: wpr-229785
ABSTRACT
<p><b>OBJECTIVE</b>To identify the MLH1 and MSH2 gene mutation in two hereditary nonpolyposis colorectal cancer (HNPCC) families.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen for MLH1 and MSH2 gene mutation, and PCR-restriction fragment length polymorphism and DNA sequencing were performed to confirm the mutation.</p><p><b>RESULTS</b>By DNA sequencing, a novel mutation of c.243_244insA located at the exon 3 of MLH1 gene was detected in family A, while c.1215_1218dupCCGA mutation located at the exon 7 of MSH2 gene was detected in family B. These two mutations can cause the formation of premature proteins.</p><p><b>CONCLUSION</b>The novel mutations c.243_244insA in MLH1 gene and c.1215_1218dupCCGA in MSH2 gene were the disease-causing mutations in the two HNPCC families.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Polymorphism, Restriction Fragment Length
/
Nuclear Proteins
/
Colorectal Neoplasms, Hereditary Nonpolyposis
/
Polymerase Chain Reaction
/
Asian People
/
Adaptor Proteins, Signal Transducing
/
MutS Homolog 2 Protein
/
MutL Protein Homolog 1
/
Genetics
Type of study:
Diagnostic study
/
Screening study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2008
Type:
Article
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