先天性非大疱性鱼鳞病样红皮病分子遗传学研究进展
被引量:6
摘要
先天性非大疱性鱼鳞病样红皮病是一种常染色体隐性遗传病,主要由TGM1、ALOX12B和ALOXE3基因突变引起。近几年来先天性非大疱性鱼鳞病样红皮病的分子遗传学取得了很大进展,本文就TGM1、ALOX12B和ALOXE3基因定位、突变位点等作一阐述。
出处
《国外医学(遗传学分册)》
2004年第1期54-57,共4页
Foreign Medical Sciences(Section of Genetics )
基金
国家863计划(2001AA227031)
参考文献24
-
1Krebsova A,Kuster W,Lestringant GG,et al. Identification,by homozygosity mapping,of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum C enet,2001,69:216-222.
-
2Jobard F, Lefevre C, Karaduman A, et al. Lipoxygenase-3 (ALOXE3)and 12 (R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet,2002,11:107-113.
-
3Lavrijsen AP,Bouwstra JA,Gooris GS,et al. Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ivhthyosis.J Invest Dermatol,1995,105: 619-624.
-
4Fischer J,Faure A,Bouadjax B,et al. Two New Loci For Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity. Am J Hum Genet,2000,64:904-913.
-
5Nemes Z, Marekov LN, Fesus L,et al. A novel function for transglutaminase 1: attachment of long-chain omegahydroxyceramides to involucrin by ester bond formation. Proc Natl Acad Sci USA, 1999,96: 8402-8407.
-
6Laiho E,Ignatius J,Mikkola H, et al. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet, 1997,61:529-538.
-
7Dib C,Faure S,Fizames C,et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature, 1996,380:
-
8Candi E,Melino G,Lahm A,et al.Transglutamiase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing. J Biol Chem, 1998,273:13693-13702.
-
9Akiyama M, Takizawa Y, Kokaji T, et al. Novel mutations of TGM1 in a child with congenital ichthyosfform erythroderma. Br J Dermatol, 2001,144:401407.
-
10Yee VC,Pedersen LC,Le Trong I,et al.Three-dimensional structure of a transglutaminase:human blood coagulation factor XHI.Proc Natl Acad Sci USA, 1994,91: 7296-7300.
同被引文献13
-
1袁丞达,王培光,常小丽,杨森,张学军.非大疱性先天性鱼鳞病样红皮病1例[J].中国皮肤性病学杂志,2006,20(9):560-561. 被引量:5
-
2王桂菊,陈为兵.新生儿先天性鱼鳞病2例临床分析[J].实用诊断与治疗杂志,2007,21(8):622-623. 被引量:3
-
3赵辨.中国临床皮肤病学[M].南京:江苏科学技术出版社,2009,12:744.
-
4姜嫒芳,姚志荣,陶建凤,祁怀山,鲁智勇,陈洁.先天性鱼鳞病的少见临床类型[J].上海交通大学学报(医学版),2007,27(8):987-990. 被引量:4
-
5Akiyama M,Sawamura D,Shimizu H.The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis[J].Clin Exp Dermatol,2003,28 (3):235-240.
-
6吴志华.现代皮肤病学[M].广州:广东人民出版社,2001.1114-1122.
-
7Akiyama M,Sawamura D,Shimizu H.The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.Clin Exp Dermatol, 2003 ; 28 : 235 - 240.
-
8Akiyama M,Sawamura D,Shimizu H.The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis[J].Clin Exp Dermatol,2003,28(3):235-240.
-
9毛辉.迪银片治疗先天性鱼鳞病样红皮病1例[J].实用医技杂志,2008,15(10):1352-1352. 被引量:1
-
10王卫亮,谢汝汉.先天性非大疱性鱼鳞病样红皮病1例[J].中国麻风皮肤病杂志,2008,24(5):390-391. 被引量:1
引证文献6
-
1袁丞达,王培光,常小丽,杨森,张学军.非大疱性先天性鱼鳞病样红皮病1例[J].中国皮肤性病学杂志,2006,20(9):560-561. 被引量:5
-
2王卫亮,谢汝汉.先天性非大疱性鱼鳞病样红皮病1例[J].中国麻风皮肤病杂志,2008,24(5):390-391. 被引量:1
-
3杨国华,张家确.先天性非大疱性鱼鳞病样红皮病伴多指畸形1例[J].皮肤性病诊疗学杂志,2011,18(6):388-389. 被引量:1
-
4周雪林,顾世明,习辉,林能兴.先天性非大疱性鱼鳞病样红皮病1例[J].中国麻风皮肤病杂志,2013,29(5):347-348.
-
5孙田,陈晴燕,刘越阳.先天性非大疱性鱼鳞病样红皮病1例[J].临床皮肤科杂志,2014,43(6):361-363.
-
6杜甜甜,王广进,陈声利.异维A酸治疗先天性鱼鳞病样红皮病一例[J].中国麻风皮肤病杂志,2017,33(11):675-676. 被引量:2
二级引证文献8
-
1姜嫒芳,姚志荣,陶建凤,祁怀山,鲁智勇,陈洁.先天性鱼鳞病的少见临床类型[J].上海交通大学学报(医学版),2007,27(8):987-990. 被引量:4
-
2王卫亮,谢汝汉.先天性非大疱性鱼鳞病样红皮病1例[J].中国麻风皮肤病杂志,2008,24(5):390-391. 被引量:1
-
3史晓蔚,时岩,王刚.板层状鱼鳞病一家系2例[J].中国皮肤性病学杂志,2010,24(3):289-289. 被引量:1
-
4孙田,陈晴燕,刘越阳.先天性非大疱性鱼鳞病样红皮病1例[J].临床皮肤科杂志,2014,43(6):361-363.
-
5黄涛.复发性鱼鳞病的联合药物治疗效果及安全性分析[J].现代诊断与治疗,2015,26(1):167-168. 被引量:1
-
6汪丹,何永萍,李仲桃,汪盛.先天性非大疱性鱼鳞病样红皮病1例及其家系突变基因的检测[J].中国皮肤性病学杂志,2016,30(11):1116-1119. 被引量:1
-
7朱东双,卢成瑜,陈德晖.新生儿鱼鳞病1例临床报道[J].大医生,2018,3(5):100-101.
-
8马龙.异维A酸治疗播散性浅表性光线性汗孔角化症的研究进展[J].中外医学研究,2021,19(22):194-196.
-
1任发亮,宗文凯,陈敏,陈旭,鞠梅,徐秀莲,顾恒.异维A酸治疗先天性非大疱性鱼鳞病样红皮病一例[J].中华皮肤科杂志,2012,45(12):907-908.
-
2周雪林,顾世明,习辉,林能兴.先天性非大疱性鱼鳞病样红皮病1例[J].中国麻风皮肤病杂志,2013,29(5):347-348.
-
3张强.迟发性着色性干皮病1例[J].中国麻风皮肤病杂志,2007,23(8):663-663. 被引量:1
-
4杨国华,张家确.先天性非大疱性鱼鳞病样红皮病伴多指畸形1例[J].皮肤性病诊疗学杂志,2011,18(6):388-389. 被引量:1
-
5李国泰.聋哑的遗传分析[J].通化师范学院学报,2005,26(2):62-64.
-
6孙田,陈晴燕,刘越阳.先天性非大疱性鱼鳞病样红皮病1例[J].临床皮肤科杂志,2014,43(6):361-363.
-
7汪丹,何永萍,李仲桃,汪盛.先天性非大疱性鱼鳞病样红皮病1例及其家系突变基因的检测[J].中国皮肤性病学杂志,2016,30(11):1116-1119. 被引量:1
-
8陆国芳,张颖.遗传性鱼鳞病发病机制的研究进展[J].中国优生与遗传杂志,2007,15(12):120-121. 被引量:7
-
9王卫亮,谢汝汉.先天性非大疱性鱼鳞病样红皮病1例[J].中国麻风皮肤病杂志,2008,24(5):390-391. 被引量:1
-
10张瑛,王莉,叶庆佾,杨希川,郝飞,钟白玉.肠病性肢端皮炎1例[J].临床皮肤科杂志,2007,36(12):781-781.