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A 7.8-kb m RNA transcript was identified in testes, thymus, breast and ovary.
There appeared to be a complex pattern of alternative splicing. (1996) demonstrated that BRCA1 encodes a 190-k D protein with sequence homology and biochemical analogy to members of the granin protein family, including chromogranin A (118910), chromogranin B (118920), and secretogranin II, also known as chromogranin C (118930).
Sequence analysis of the duplicated exons of BRCA1, 1A1-3B, and flanking genomic DNA revealed to 8700509]" pmid="8700509"Brown et al.
(1996) that there was maintenance of exon/intron structure and a high degree of nucleotide sequence identity, which suggested that these duplicated exons are nonprocessed pseudogenes.
The map comprised a contig of 137 overlapping YACs and P1 clones, onto which they had placed 112 PCR markers.
They localized more than 20 genes on the map, 10 of which had not been mapped to the region previously, and isolated 30 c DNA clones representing partial sequences of as yet unidentified genes.
Semiquantitative PCR detected variable and developmentally regulated expression of BRCA1-IRIS and full-length BRCA1 in several adult and fetal human tissues.This region contains BRCA1 exons 1A, 1B, and 2 and their surrounding introns; as a result, a BRCA1 pseudogene lies upstream of BRCA1.11880951, images] [Full Text]" pmid="11880951"Puget et al.They showed that this region of chromosome 17 contains a tandem duplication of approximately 30 kb which results in 2 copies of BRCA1 exons 1 and 2, of exons 1 and 3 of the adjacent gene that 7997258] [Full Text]" pmid="7997258"Brown et al.(1994) designated 1A1-3B (M17S2; 166945), and of a previously reported 295-bp intergenic region.
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8938427] [Full Text]" pmid="8938427"Albertsen et al. (1994) used simple sequence repeat (SSR) markers to construct a high-resolution genetic map of a 40-c M region around 17q21.