Unknown

Dataset Information

0

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

ABSTRACT: Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally, linkage of the disease to three loci on 1p, 1q, and 6p has been described. However, the majority of cases are still uncharacterised. We have performed linkage analysis in a large nuclear ARRP family with five affected sibs. After exclusion of several regions of the genome known to contain loci for retinal dystrophies, a genomic search for linkage to ARRP was undertaken. Positive lod scores were obtained with markers on 2q31-q33 (Zmax at theta = 0.00 of 4.03, 4.12, and 4.12 at D2S364, D2S118, and D2S389, respectively) defining an interval of about 7 cM for this new ARRP locus, between D2S148 and D2S161. Forty-four out of 47 additional ARRP families, tested with markers on 2q32, failed to show linkage, providing evidence of further genetic heterogeneity.

SUBMITTER: Bayes M 

PROVIDER: S-EPMC1051219 | biostudies-literature | 1998 Feb

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

Bayés M M   Goldaracena B B   Martínez-Mir A A   Iragui-Madoz M I MI   Solans T T   Chivelet P P   Bussaglia E E   Ramos-Arroyo M A MA   Baiget M M   Vilageliu L L   Balcells S S   Gonzàlez-Duarte R R   Grinberg D D  

Journal of medical genetics 19980201 2

Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally, linkage of the disease to three loci on 1p, 1q, and 6p has been described. However, the majority of cases are still uncharacterised. We have performed linkage analysis in a large nuclear ARRP family with five affected sibs. After exclusion of several regions of the genome known to contain loci for r  ...[more]

Similar Datasets

Unknown A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.
| S-EPMC3399686 | biostudies-literature
Unknown Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.
| S-EPMC1734432 | biostudies-literature
Unknown An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.
| S-EPMC3344692 | biostudies-literature
Unknown A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26.
| S-EPMC1288098 | biostudies-literature
Unknown A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
| S-EPMC1377251 | biostudies-other
Unknown SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.
| S-EPMC6349500 | biostudies-literature
Unknown SLC7A14 linked to autosomal recessive retinitis pigmentosa.
| S-EPMC3974215 | biostudies-literature
Unknown Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
| S-EPMC2869006 | biostudies-literature
Unknown Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
| S-EPMC5142109 | biostudies-literature
Unknown A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.
| S-EPMC1377100 | biostudies-literature