✦ LIBER ✦

Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21

✍ Scribed by Ghiasvand, N.M.; Kanis, A.B.; Helms, C.; Sheffield, V.C.; Stone, E.M.; Donis-Keller, H.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 21 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000117)90:2<165::aid-ajmg15>3.0.co;2-o

No coin nor oath required. For personal study only.

✦ Synopsis

Nonsyndromic congenital retinal nonattachment (NCRNA) comprises congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, and nystagmus. We searched for the location of the gene responsible for an autosomal recessive form of NCRNA by using DNA samples from 36 individuals from a founding population. To this end we applied homozygosity mapping and a DNA pooling strategy using genomewide screen polymorphic microsatellite markers. We used two DNA pools, one pool contained DNA from 16 individuals affected with NCRNA. The second pool contained DNA from 20 normal carrier individuals, the parents of the patients. The polymorphic microsatellite markers were polymerase chain reaction (PCR)-amplified in each DNA pool; the PCR products were electrophoresed on polyacrylamide gels and visualized by silver staining. The banding patterns from DNA pools of affected and unaffected persons were compared, and linkage was detected between the NCRNA and D10S1225, a marker in 10q21. To confirm linkage of NCRNA to chromosome 10q21 by homozygosity mapping, the patients and their carrier parents were genotyped for a number of other microsatellite polymorphic markers in the 10q21region. Statistically significant linkage was observed with multiple polymorphic markers in the 10q21 region. At straight theta = 0 with markers D10S1225, D10S1428, D10S1422, and D10S1418 maximum LOD scores of 3.74, 3.58, 3. 79, and 3.48 were generated, respectively. TDT P values for markers D10S1225 and D10S1418 were 0.0000021 and 0.000021, respectively.

📜 SIMILAR VOLUMES

High incidence of autosomal recessive no

High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population

✍ Ghiasvand, Noor M.; Shirzad, Ebrahim; Naghavi, Mohsen; Mahdavi, Mohammad R. Vaez 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

In an isolated and founding Iranian population the prevalence of congenital total blindness is 1.1%. Clinical findings such as lack of perception of light, massive retrolental mass, shallow anterior chamber and nystagmus, in otherwise normal individuals, correspond to nonsyndromal congenital retinal

Localization of a novel gene for nonsynd

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31

✍ Greinwald, John H.; Wayne, Sigrid; Chen, Achih H.; Scott, Daryl A.; Zbar, Ross I 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 2 views

## Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary hearing impairment (HHI). To date, 16 different loci have been reported, making ARNSHL an extremely heterogeneous disorder. One of these loci, DFNB4, was mapped to a 5-cM interval of 7q31 in a large Midd

Chromosome 21 workshop

✍ Curtis, D.; Aita, V.M.; Baron, M.; Bennett, P.; Detera-Wadleigh, S.; McQuillin, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

The report of the 1997 workshop presented overall evidence providing strong support for a susceptibility locus for bipolar disorder at C21q22-23. The 1998 workshop considered the latest results from four groups, and additional studies also have been incorporated into this report. The workshop noted

Mapping of a disease locus for familial

Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21

✍ Froelich, Susanne; Basun, Hans; Forsell, Charlotte; Lilius, Lena; Axelman, Karin 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB

Familial frontotemporal dementia (FTD) is a complex disorder with lack of distinctive histopathological markers found in other types of dementia. Most of the linkage reports from FTD families map the disease loci to chromosome 17q21-22. However, FTD is genetically heterogeneous, as linkage also has

Confirmation of linkage of hereditary pa

Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

✍ Anderson, Jennifer L.; Khan, Mehmood; David, William S.; Mahdavi, Zohreh; Nuttal 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

Familial lipodystrophy is a genetically heterogeneous set of disorders characterized by a total or partial absence of subcutaneous fat, diabetes mellitus or impaired glucose tolerance, hyperlipidemia, and hypermetabolism [Senior and Gellis, 1964]. One subtype, familial partial lipodystrophy Dunnigan

Chromosomes 8 and 10 workshop

✍ Wildenauer, Dieter B.; Schwab, Sibylle G.; Blaveri, A.; Culverhouse, R.; Curtis, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 2 views

The chromosomes 8 and 10 workshop took place at the Sixth World Congress on Psychiatric Genetics from October 6 th -10 th , 1998 in Bonn, Germany. Aim of the workshop was to discuss and summarize reports on potential susceptibility genes for psychiatric disorders. Linkage-findings on chromosome 8 co