Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.
Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.
复制标题
排除两个候选色素位点 c 和 b（染色体 11p 的一部分）和 33 个随机多态性标记作为酪氨酸酶阳性眼皮肤白化病的位点。
DOI：
10.1007/bf00217458
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发表时间：
1993
期刊：
影响因子：
5.3
通讯作者：
Jenkins,T
中科院分区：
文献类型：
--
作者：
Colman,MA;Stevens,G;Ramsay,M;Kwon,B;Jenkins,T
酪氨酸酶阳性皮肤白化病（Tyrosinase-Positive OCA）的位点尚未确定。对ty-pos OCA位点的搜索包括对候选色素位点和候选染色体区域的连锁搜索，以及在42个家庭中使用高度多态性标记的随机搜索，其中包括271个个体，其中79个受到影响。在重组分数θ=0.01的情况下，小鼠中与白化病位点c同源的酪氨酸酶（TYR）位点（11q14-q21）和小鼠中与棕色位点b同源的CAS2/TRP1位点（9p22-pter）的lod评分分别为-5.89和-7.22，因此它们不可能是typos OCA位点。在候选染色体区域，检测了11p，四个位点（探针），SAA (pSAA82), CALC (pHC36), HBB （γ -珠蛋白单倍型）和Wilm's肿瘤位点的AC重复多态性（WT1）。以以下lod评分排除11p的一部分：pSAA82 lod=-2.05, θ=0.10；θ=0.05时，ph =-3.87；θ=0.10时γ -珠蛋白单倍型lod=-2.80；θ=0.10时WT1负载=-2.34。随机分布在13条不同染色体上的33个多态性标记均被排除在与ty-pos OCA的密切连锁之外。
The locus for Tyrosinase-Positive Oculocutaneous Albinism (ty-pos OCA) has not yet been localised. The search for the ty-pos OCA locus has included a search for linkage to candidate pigment loci and a candidate chromosomal region, as well as a random search using highly polymorphic markers in 42 families, including 271 individuals of whom 79 are affected. The lod scores for the tyrosinase (TYR) locus (11q14–q21), homologous to the albino locus,c, in the mouse and the CAS2/TRP1 locus (9p22-pter), homologous to the brown locus,b, in the mouse were -5.89 and -7.22, respectively, at a recombination fraction of θ=0.01, thus excluding them from being the ty-pos OCA locus. In the candidate chromosomal region, 11p, four loci (probes) were tested, SAA (pSAA82), CALC (pHC36), HBB (Gamma-globin haplotype) and an AC repeat polymorphism at the Wilm's Tumour locus (WT1). A portion of 11p was excluded with the following lod scores: pSAA82 lod=-2.05 at θ=0.10; pHC36 lod=-3.87 at θ=0.05; gamma-globin haplotype lod=-2.80 at θ=0.10; and WT1 lod=-2.34 at θ=0.10. Thirty-three polymorphic markers randomly distributed on 13 different chromosomes were all excluded from close linkage to ty-pos OCA.