Mutation in the mismatch repair gene Msh6 causes cancer susceptibility

Article Abstract:

A study was conducted on the cloned Msh6 gene using gene targeting. Results have shown that mice without Msh6 can exist, but homozygous mutant cells reveal one nucleotide mismatch repair effect. Moreover, these mice developed several tissue tumors that led to a significant reduction in their life span. These results indicated that Msh6 mutation causes cancer susceptibility and may be associated with hereditary cancer predisposition.

Gene mutations, Gene mutation, Mice, Mice (Rodents), Cancer, Cancer genetics

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome

Article Abstract:

Research indicates that the 3-Mb hemizygous deletion is mediated by meiotic intrachromosomal recombination in subjects who have velo-cardio-facial syndrome. In studies using two three-generation families, haplotype analysis, genomic fingerprint analysis and physical mapping showed that 200-kb region low-copy repeats are nearly identical, implying that deletion is affected by homologous recombination.

Congenital heart disease, Congenital heart defects, Genetic disorders, Chromosome abnormalities, Craniofacial dysostosis

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TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

Article Abstract:

Research has been conducted on the velo-cardio-facial/DiGeorge syndrome characterized by the phenotypic features such as cardiovascular defects. The cre-loxP strategy in generating the mice which are hemizygous for the deletion has been used to investigate the etiology of the cardiovascular disorder and the results are presented.

Germany, Statistical Data Included, Analysis, Cardiovascular diseases, Causes of, Diseases, Immunological deficiency syndromes, Immunologic deficiency syndromes, Cell research, Cytological research, Etiology (Medicine)

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