遗传性黄斑变性的分子遗传学研究进展
摘要
遗传性黄斑变性是一组由遗传因素引起的脉络膜视网膜退行性病变 ,种类繁多 ,其遗传方式、发病机制并不清楚。近年来 ,分子遗传学的研究已初步揭示了该类疾病的相关致病基因位点 ,以及基因型与表型间的相互关系 ,从而加深了对其发病机制、遗传方式的认识。现将几种主要的遗传性黄斑变性的分子遗传学最新研究进展综述如下。
出处
《中华眼底病杂志》
CAS
CSCD
2002年第4期323-324,共2页
Chinese Journal of Ocular Fundus Diseases
参考文献10
-
1LewisRA,ShroyerNF,SinghN,et al.Genotype/phenotypeanalysis of a photoreceptor- specificABC transporter gene,ABCR,inStargardt disease[].AmJ HumGenet.1999
-
2Forsman K,Graff C,Nordstrom SK,et al.The gene for Best ′s macular dystrophy is located at 11q13 in a Swedish family[].Clinical Genetics.1992
-
3Petrukhin. K,Koisti. MJ,Bakall. B,et al.Identification of the gene responsible for Best macular dystrophy[].Nature Genetics.1998
-
4Marquardt A,Stohr H,Passomore LA,et al.Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy ( Best’ s disease)[].Human Molecular Genetics.1998
-
5Bergen AA,Pinckers AJ.Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity[].The American Journal of Human Genetics.1997
-
6Sokal I,Li N,Surgucheva I,et al.GCAP1 ( Y99C ) mutant is constitutively active in autosomal dominant cone dystrophy[].Molecular Cell.1998
-
7Weber BHF,Vogt G,Wolz W,et al.Sorsby’ s fundus dystrophy is genetically linked to chromosome 22q13-qter[].Nature Genetics.1994
-
8Fariss RN,Apte SS,Olsen BR,et al.Tissue inhibitor of metalloproteinase-3 is a component of Bruch’ s membrane of the eye[].American Journal of Pathology.1997
-
9Felbor U,Stohr H,Amann T,et al.A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinase-3(TIMP3) in Sorsby’ s fundus dystrophy with unusual clinical features[].Human Molecular Genetics.1995
-
10Weber BHF,Vogt G,Pruett RC,et al.Mutations in the tissue inhibitor of metalloproteinase-3 ( TIMP-3 ) in patients with Sorsby’ s fundus dystrophy[].Nature Genetics.1994
-
1黄凯,吴献可.遗传性黄斑变性的闪光视网膜电图[J].中国实用眼科杂志,1994,12(8):479-481.
-
2冯小玲,梁伊兴.青年型遗传性黄斑变性(Stargardt病)1例报告[J].交通医学,2000,14(1):97-97.
-
3范垂岭.Stargardt病一家2例[J].中国冶金工业医学杂志,2006,23(2):145-145.
-
4刘来富,张强,于丽,赵燕,蔄婷婷.伴有屈光不正先天性卵黄状黄斑营养不良一例[J].中国实用眼科杂志,2015,33(2):211-212.
-
5李振良.如何预防老年性黄斑变性[J].当代护士(中旬刊),1999,6(6):54-54.
-
6骆荣江,葛坚.青光眼相关致病基因的研究进展[J].眼科学报,1997,13(4):196-201.
-
7谷加品.带孩子远离近视诱因[J].药物与人,2001,14(6):22-22.
-
8王韧琰,钟勇.甲状腺相关性眼病研究新进展[J].国际眼科杂志,2009,9(7):1334-1337. 被引量:11
-
9刘雪清,朱英,古丽努尔·托肯.视锥细胞营养不良一例[J].中国实用眼科杂志,2008,26(12):1330-1330.
-
10李鹏婷,施瑜劲,黄恩娥.视锥细胞营养不良2例报告[J].福建医药杂志,2006,28(5).