显性视网膜色素变性家系已知连锁位点的筛查
Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa
摘要
目的用连锁分析法对1个中国人显性视网膜色素变性家系进行已知位点的筛查，寻找其致病基因。方法随机选取已知致病基因上下约5cM（JB）范围内的27对微卫星标记，确立单倍型，用两点法计算最大优势对数（Lodscore）值。结果所选微卫星标记与该家系表型间最大Lod值小于1。结论基本排除由已知常染色体显性遗传视网膜色素变性的候选基因导致该家系的病变。
Objective To map the disease causing gene in a Chinese family with autosomal dominant retinitis pigmentosa. Methods Twenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer. Two-point linkage analysis was performed using MLINK. Results The Lod score of each marker vs adRP was below 1. Conclusion The phenotype of this family may not be caused by mutation of the known disease-causing genes.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2009年第1期70-73,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（30671182）
参考文献14
-
1Hims MM, Diager SP, Inglehearn CF. Retinilis pigmentosa: genes, proteins and prospects. Dev Ophthalmol,2003,37 : 109 -125.
-
2Cohen M, Bitner- Glindzicz M, Luxon L. The changing face of Usher syndrome: clinical implications, Int d Audiol, 2007,46: 82 -93.
-
3Azari AA, Aleman TS, Cideeiyan AV, et al. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maeulopathy to retina wide degeneration. Invest Ophthalmol Vis Sci,2006,47 : 5004-5010.
-
4Wang Q, Chen Q, Zhao K, et al. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet , 2001, 22 : 133-154.
-
5Pierce EA, Quinn T, Meehan T, et al. Mutations in a gene encoding a new oxygen regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet, 1999,22 :248-254.
-
6Nathans J, Hogness DS. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Nat Acad Sci, 1984,81 : 4851-4855.
-
7Farrar GJ, Jordan SA, Kenna P, et al. Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics, 1991,11 : 870- 874.
-
8Inglehearn CF, Carter SA, Keen TJ, et al. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet,1993,4 : 51-53.
-
9Jordan SA, Farrar GJ, Kenna P, et al. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet, 1993,4 : 54-58.
-
10Al-Maghtheh M, Inglehearn CF, Keen TJ, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet,1994,3 ; 351-354.
-
1王飞,杜薇,王春芳.常染色体显性遗传视网膜色素变性家系的分子遗传学研究[J].检验医学与临床,2014,11(13):1807-1809.
-
2李宁东,李扬,赵堪兴,陈薇英,陆莎莎,王立,王黎明,单晓艳.中国人一个显性视网膜色素变性家系8号染色体连锁分析[J].眼科研究,2004,22(1):92-94. 被引量：5
-
3李宁东,赵堪兴,李杨,陆莎莎,赵晨,陆薇英.视网膜色素变性显性遗传家系3号染色体连锁分析[J].眼科,2004,13(6):342-345.
-
4周久模,陶清萍,杨华,柴建华,魏勇,吴学军.XRRP携带者的临床表型与基因诊断[J].云南大学学报（自然科学版）,1999,21(S3):263-264.
-
5MargaretM.DeAngelis JonnaL.Grimsby.显性视网膜色素变性的患者中在NRL基因新的突变和相关的临床发现[J].美国医学会眼科杂志（中文版）,2002,14(4).
-
6田虹,付四清,李劲,张虹,扬真荣.视网膜色素变性一家系33例[J].中华医学遗传学杂志,2003,20(4):278-278.
-
7俞孝芳,张哲,李红.糖尿病合并尿崩症及视网膜色素变性1例[J].浙江医学,2006,28(4):297-297.
-
8籍莉,肖慧芳,苏晓玲,杨秀章.微创小切口两点法重睑成形术[J].中华医学美学美容杂志,2006,12(4):242-243. 被引量：11
-
9布娟,李宁东,赵堪兴,赵晨,陆莎莎,陈薇英.视紫红质基因在显性视网膜色素变性家系的突变筛查[J].天津医药,2005,33(10):617-620. 被引量：1
-
10李春霞,盛迅伦,庄文娟.视网膜色素变性1基因在常染色体显性遗传视网膜色素变性家系中的突变分析[J].国际眼科杂志,2008,8(10):2020-2022. 被引量：1
