Tuesday, December 28, 2010

chi-like sequence 5'-GCTGGTGG-3' at intron 2 of CYP21 genes

CYP21A2_Intron2_282nt
0 mismatch: no
1 mismatch: 1

Catatctggtggggag

2 mismatch: 3

Aagggccgggggcatt
Ccaggctggtcttaaa
Ggaagctcttgggggg

CYP21A1P_Intron2_288nt
0 mismatch: no
1 mismatch: no
2 mismatch: 4

Aagggccgggggcatt
Ccaggctggtcttgaa
Ggaagctcttgggggg
agaagcaggtgttgag

aLSO, THERE IS ONE SITE A LITTLE (22BP) UPSTREAM OF P30L MUTATION AT EXON 1 OF both 21A2 and 21a1p.

TGGAACTGGTGGAAGC 

Chi-like sequence was summarized basing on an old version (1986) reference sequence of CYP21.

http://www.nature.com/jhg/journal/v49/n2/pdf/jhg200411a.pdf




 

关于 CYP21A2 的序列

http://genome.ucsc.edu/cgi-bin/hgc?hgsid=180461787&g=htcDnaNearGene&i=NM_000500&c=chr6_qbl_hap2&l=3221082&r=3224420&o=refGene&hgSeq.promoter=on&boolshad.hgSeq.promoter=0&hgSeq.promoterSize=1000&hgSeq.utrExon5=on&boolshad.hgSeq.utrExon5=0&hgSeq.cdsExon=on&boolshad.hgSeq.cdsExon=0&hgSeq.utrExon3=on&boolshad.hgSeq.utrExon3=0&hgSeq.intron=on&boolshad.hgSeq.intron=0&boolshad.hgSeq.downstream=0&hgSeq.downstreamSize=1000&hgSeq.granularity=gene&hgSeq.padding5=0&hgSeq.padding3=0&boolshad.hgSeq.splitCDSUTR=0&hgSeq.casing=exon&boolshad.hgSeq.maskRepeats=0&hgSeq.repMasking=lower&submit=submit

http://genome.ucsc.edu/cgi-bin/hgc?hgsid=180461787&o=3221082&t=3224420&g=refGene&i=NM_000500

http://genome.ucsc.edu/cgi-bin/hgTracks?position=chr6_qbl_hap2:3221083-3224420&hgsid=180461787&refGene=pack&hgFind.matches=NM_000500,

UCSC Genome Browser on Human Mar. 2006 (NCBI36/hg18) Assembly

注解: NCBI36的数据和Ensembl的数据ENSG00000206338完全吻合,但是和GRCh37的数据有较大差别,所以记住比对数据均来自NCBI36或者Ensembl ENSG00000206338 (1000 genomes),intron 2的长度是282bp.

但是,1000genome 显示有6个不同的CYP21A2 protein链接,相对应有3个ENSG (ENSG00000206338, ENSG00000198457 and ENSG00000168482),SEQUENCHER显示它们之间有9个不匹配的位置,但是没有gap差异,也就是长度上没有不同。