人类第10号染色体缺失的编码与磷酸酶和张力蛋白同源的基因（phosphatase and tensin homologue deleted on chromosome 10,PTEN）是继p53后第二重要的与多种肿瘤发生发展有密切关系的抑癌基因。该基因能转录一段5.5kb的mRNA,其编码的...人类第10号染色体缺失的编码与磷酸酶和张力蛋白同源的基因（phosphatase and tensin homologue deleted on chromosome 10,PTEN）是继p53后第二重要的与多种肿瘤发生发展有密切关系的抑癌基因。该基因能转录一段5.5kb的mRNA,其编码的蛋白在结构上与蛋白磷酸酶的催化结构域以及细胞骨架蛋白、张力蛋白和辅助蛋白具有高度同源性。展开更多
Psoriasis is a chronic inflammatory skin disease that affects 0.1% - 5% depending on the population. PSORS1 is the major susceptibility locus, accounting for approximately 33% - 50% of the genetic component of psorias...Psoriasis is a chronic inflammatory skin disease that affects 0.1% - 5% depending on the population. PSORS1 is the major susceptibility locus, accounting for approximately 33% - 50% of the genetic component of psoriasis among Caucasians. PSORS1 is located within the major histocompatability complex (MHC) locus on 6p21.3. Its position has been refined to hundreds of kilobase and the region located at ～ 100- 200 kb telomeric to human leukocyte antigen (HLA)- C is a very strong candidate. To determine the MHC psoriasis risk haplotype, we screened the whole 46 kb interval for single- nucleotide polymorphisms (SNP) and identified 138 SNP. We genotyped 29 SNP throughout this region in psoriatic nuclear families. We calculated the frequency of haplotypesgenerated bythe 29 SNP using all genotyped founder individuals and found four common haplotype with frequency >0.10. We then used SNP- tagger to derive the best six SNP and fed these into Transmit using 148 nuclear families. We found that CTGGAC haplotype is a single- point score haplotypes telomeric to HLA- C and gives a 1 df, χ 2 of 50.27 (P < 0.0001). Most importantly the six selected SNP accurately tagged the most common haplotype found in this region. Moreover, using the same program (Transmit) we show that the association with CTGGAC is higher than the one with HLA- Cw6 (χ 2=10.53; P=0.0051). Our results give scores as high as the highest single- point scores suggesting that it is unlikely to be able to discriminate the origin of the association on this analysis on strength of association.展开更多
文摘人类第10号染色体缺失的编码与磷酸酶和张力蛋白同源的基因（phosphatase and tensin homologue deleted on chromosome 10,PTEN）是继p53后第二重要的与多种肿瘤发生发展有密切关系的抑癌基因。该基因能转录一段5.5kb的mRNA,其编码的蛋白在结构上与蛋白磷酸酶的催化结构域以及细胞骨架蛋白、张力蛋白和辅助蛋白具有高度同源性。
文摘Psoriasis is a chronic inflammatory skin disease that affects 0.1% - 5% depending on the population. PSORS1 is the major susceptibility locus, accounting for approximately 33% - 50% of the genetic component of psoriasis among Caucasians. PSORS1 is located within the major histocompatability complex (MHC) locus on 6p21.3. Its position has been refined to hundreds of kilobase and the region located at ～ 100- 200 kb telomeric to human leukocyte antigen (HLA)- C is a very strong candidate. To determine the MHC psoriasis risk haplotype, we screened the whole 46 kb interval for single- nucleotide polymorphisms (SNP) and identified 138 SNP. We genotyped 29 SNP throughout this region in psoriatic nuclear families. We calculated the frequency of haplotypesgenerated bythe 29 SNP using all genotyped founder individuals and found four common haplotype with frequency >0.10. We then used SNP- tagger to derive the best six SNP and fed these into Transmit using 148 nuclear families. We found that CTGGAC haplotype is a single- point score haplotypes telomeric to HLA- C and gives a 1 df, χ 2 of 50.27 (P < 0.0001). Most importantly the six selected SNP accurately tagged the most common haplotype found in this region. Moreover, using the same program (Transmit) we show that the association with CTGGAC is higher than the one with HLA- Cw6 (χ 2=10.53; P=0.0051). Our results give scores as high as the highest single- point scores suggesting that it is unlikely to be able to discriminate the origin of the association on this analysis on strength of association.
