Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family

Journal of Medical Genetics

Volumn 36, Issue 9, 1999, Pages 705-707

  Gu, Su Min ^a   Kumaramanickavel, Govindasamy ^b   Srikumari, C R ^b   Denton, Michael J ^c   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF MADRAS   (India)

^c UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Chromosome 2p11 p15; Homozygosity mapping; Retinitis pigmentosa; RP28

Indexed keywords

VISININ;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 2P; CONSANGUINEOUS MARRIAGE; FAMILY STUDY; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; NIGHT BLINDNESS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; VISUAL FIELD DEFECT;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MICROSATELLITE REPEATS; PEDIGREE; RETINITIS PIGMENTOSA;

EID: 0032830216     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567-70.
2. Polymeropoulos M, Ide S, Soares M, Lennon G. Sequence characterization and genetic mapping of the human VSNL1 gene, a homologue of the rat visinin-like peptide RNVP1. Genomics 1995;29:273-5.
3. Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995;4:1739-43.
4. Gal A, Apfelstedt-Sylla E, Janecke AR, Zrenner E. Rhodopsin mutations in inherited retinal dystrophies and dysfunctions. Prog Retin Eye Res 1997;16:51-79.
5. Arbour NC, Zlotogora J, Knowlton RG, et al. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997;6:689-94.
6. Kohl S, Marx T, Giddings I, et al. Total colourblindness is caused by mutations in the gene encoding the α subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 1998;19:257-9.