Genetic fine mapping of the gene for nonsyndromic congenital retinal nonattachment

✍ Scribed by Ghiasvand, N.M.; Fleming, T.P.; Helms, C.; Avisa, Aledavood; Donis-Keller, H.

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 23 KB
• Volume: 92
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(20000529)92:3<220::aid-ajmg11>3.0.co;2-y

✦ Synopsis

Autosomal recessive nonsyndromic congenital retinal nonattachment (NCRNA) comprises congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, and nystagmus in otherwise normal individuals. Polymerase chain reaction-based linkage analyses of polymorphic microsatellite markers in the 10q21 region on DNA samples from 106 individuals provide evidence that the NCRNA locus is within an interval of ∼0.6-1.5 cM, flanked by the markers D10S522 and D10S1418. Haplotype analysis demonstrated a unique founder haplotype shared by 100% of the NCRNA chromosomes. These results indicate a founder effect and the strong possibility of a single mutation as the cause of the disease in the affected population. Based on these findings, it is now possible to provide relatively accurate carrier detection and prenatal diagnostic testing for families with NCRNA based on close flanking markers and the capacity to identify NCRNA chromosomes by their haplotypes.