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Title   한국인에서의 APC 유전자 인접 CA 반복구조 ( D5S346 ) 의 다형성 ( CA Repeat Polymorphism at the D5S346 Locus Tightly Linked to Adenomatous Polyposis Coli ( APC ) Gene in Korean Population )
Publicationinfo   1996 Jan; 028(03): 533-544.
Key_word   CA-repeat polymorphism, APC gene, Familial adenomatous polyposis, Link-age analysis
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Abstract   A subclass of human tandemly repeated DNA contains very short simple sequence repeats such as (dC-dA). (dG-dT), designated as CA repeats or (CA). It is now recognized that there are 50,000-100,000 interspaced (CA), blocks in the human genome. The function of these repeat sequences remains obscure, but since (CA). exhibit high degree of length polymorphisms and Mendelian inheritance, they can be extremely useful for genetic diagnosis of hereditary diseases. In this paper, we have examined the CA repeat polymorphism at the D5S346 locus, which is located 30~70kb downstream to the APC (adenomatous polyposis coli) gene responsible for development of familial adenomatous polyposis, in 55 unrelated Koreans. We were able to identify 11 different alleles ranging from 114 to 138 base pairs(bp) in size. The observed heterozygosity was 0.60. Using this information, we could successfully make presymptomatic diagnosis of all the at-risk individuals in 2 Korean familial adenomatous polyposis(FAP) families. Our result indicates that higly polymorphic dinucleotide (CA)-repeat marker D5S346 can serve as an important tool for presymptomatic diagnosis of Korean FAP families.
저 자   한혜정(Hye Jung Han),원용진(Yong Jin Won),박규주(Kyu Joo Park),박재갑(Jae Gahb Park)