疾患関連遺伝子を単離するためのゲノム解析法(遺伝医学の最近の進歩,シンポジウム)

概要

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Positional cloning is one of the most common techniques to isolate disease-related genes from enormous human genome consisting of about 100,000 genes. This technique has led to the discovery of many genes associated with diseases. Human chromosome 11 is one of autosomes of which many disease genes have been mapped. To facilitate the positional cloning of disease genes and understand the overall feature of the genome organization, a complete NotI restriction map of the entire long arm of human chromosome 11 was constructed using linking-clone mapping. This physical map covers 77.6 Mb from a pericentromeric NotI site to the terminus and provides the most accurate ordering and distance estimation to date. Based on the Notl restriction map, we have constructed a 3 Mb contig map on 11g13.1-g13.3 which encompasses all the candidate loci of Bardet-Biedle syndrome type I (BBS 1) and spinocer-ebellar ataxia type 5 (SCA 5). This contig will facilitate the identification of candidate genes by direct cDNA selection and genomic sequencing. The inv (11)(p15g22) is a recurrent chromosomal abnormality associated with de novo and therapy-related myeloid malignancies. Positional cloning showed the consistent rearrangement of the DDX 10 gene on chromosome 11q22, which encodes a putative RNA helicase.
東京女子医科大学の論文
1998-05-25