Oculocutaneous albinism 1 minimal pigment type : a case report on the analysis of genotype of an OCA1MP patient
Oculocutaneous albinism 1 minimal pigment type : a case report on the analysis of genotype of an OCA1MP patient
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眼皮肤白化病1最小色素型：OCA1MP患者基因型分析一例报告
DOI：
10.1111/j.1365-2133.2011.10690.x
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
et al
中科院分区：
文献类型：
--
作者：
Kono;M.;Kondo;T.;Ito;S.;Suzuki;T.;Wakamatsu;K;et al
图2.使用抗桥粒斑蛋白1和2的抗体的免疫荧光显微术。(a)在正常对照皮肤中，在角质形成细胞周围存在泛表皮染色。(b)病人的皮肤。在一些细胞中，细胞周边（箭头）偶尔出现局部染色加重，细胞质染色更多（箭头）。比例尺= 50 μm。(c-f)DSP基因的分子遗传学分析显示复合杂合突变。(c)外显子24中的正常DSP序列，显示核苷酸7090-7104。(d)来自受影响个体的如（c）中的等同区域显示杂合错义突变c。7096 C> T（箭头）导致氨基酸取代p.Arg2366Cys。(e)外显子24中的正常桥粒斑蛋白序列，显示核苷酸6715-6729。(f)来自受影响个体的如（e）中的等同区域显示杂合的两个碱基对缺失突变，c. 6721-6722 del（p.Ile2241Phefsx3，箭头），导致下游6个碱基对的提前终止密码子。
Fig 2. Immunofluorescence microscopy using an antibody against desmoplakin 1 and 2.(a) In normal control skin there was pan-epidermal staining at keratinocyte cell peripheries.(b) The patient’s skin. In some cells there was occasional focal accentuation of staining at the cell periphery (arrows) and more cytoplasmic staining (arrowheads). Scale bars= 50 μm.(c–f) Molecular genetic analysis of the DSP gene showing compound heterozygous mutation.(c) Normal DSP sequence in exon 24, showing nucleotides 7090–7104.(d) The equivalent region as in (c) from the affected individual showing heterozygous missense mutation c. 7096C> T (arrow) leading to amino acid substitution p. Arg2366Cys.(e) Normal desmoplakin sequence in exon 24, showing nucleotides 6715–6729.(f) The equivalent region as in (e) from the affected individual showing heterozygous two base-pair deletion mutation, c. 6721–6722del (p. Ile2241Phefsx3, arrow), resulting in a premature termination codon six base pairs downstream.