Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes

被引：2

作者：

Alexander, C

Bernstein, SL

Rocchi, M

Auburger, G

机构：

[1] Univ Hosp Duesseldorf, Dept Neurol, Dusseldorf, Germany

[2] Univ Maryland, Dept Ophthalmol, Baltimore, MD 21201 USA

[3] Inst Genet, Bari, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2001年 / 9卷 / 04期

关键词：

PAC contig; clone end-sequencing; EST expression analysis; OPA1;

D O I：

10.1038/sj.ejhg.5200630

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We have fine mapped 29 ESTs of Genemap'99 to YACs and radiation hybrids covering 8 cM of the chromosomal region of 3q28-q29. Focusing on the genetic interval of similar to1 Mb between markers D3S3669 and D3S3562 we established a sequence-ready PAC contig which covers the OPA1 locus containing the gene causing autosomal dominant optic atrophy (ADOA; OMIM*165500). The fidelity of the contig was increased by the generation of 181 PAC end sequences, 84 of which resulted in PCR-able STSs. Sequence content evaluation of the PAC ends by BLAST analysis identified two novel ESTs localising to the OPA1 crucial interval.

引用

页码：307 / 310

页数：4

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