14 Kilobase deletion in the promoter region of BRCA1 in a breast

Details 14 Kilobase deletion in the promoter region of BRCA1 in a breast 14 Kilobase deletion in the promoter region of BRCA1 in a breast

1998-04-08

2000-11-21

Zitomer, Stephanie W.

Organic compounds -- part of the class 532-570 series

Organic compounds

Carbohydrates or derivatives

536 231, C07H 2104

Patent

active

061505145

ABSTRACT:
A 14 kb deletion in the promoter region of a BRCA1 gene has been found in a kindred which had earlier been linked to BRCA1. This deletion is apparently the result of unequal crossing over between two Alu repeats, one of which is 5' upstream of the start of the coding region and the second which is within intron 2. The deletion results in exons 1a, 1b and 2 being deleted from the gene with the result that the gene cannot be transcribed.

REFERENCES:
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GenBank Accession No. L78833. World Wide Web URL: http://www2.ncbi.nlm.nih.gov/.
PubMed Accession No. U37574. World Wide Web URL: http://www.ncbi.nlm.nih.gov/.

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