Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21

Journal Article · Tue Aug 01 00:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:105257

Shugart, Yin Y; Banerjee, P; Knowles, J A ^[1]

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1. Columbia Univ., New York, NY (United States); and others

The inherited retinal degenerations known as retinitis pigmentosa (RP) can be caused by mutations at many different loci and can be inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait. Two forms of autosomal recessive (arRP) have been reported to cosegregate with mutations in the rhodopsin gene and the beta-subunit of rod phosphodiesterase on chromosome 4p. Genetic linkage has been reported on chromosomes 6p and 1q. In a large Dominican family, we reported an arRp gene near the region of the peripherin/RDS gene. Four recombinations were detected between the disease locus and an intragenic marker derived from peripherin/RDS. 26 refs., 2 figs., 1 tab.

• OSTI ID: 105257
• Journal Information: American Journal of Human Genetics, Vol. 57, Issue 2; Other Information: PBD: Aug 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
99 MATHEMATICS
COMPUTERS
INFORMATION SCIENCE
MANAGEMENT
LAW
MISCELLANEOUS
GENETIC MAPPING
SEX DEPENDENCE
HUMAN CHROMOSOME 6
PATIENTS
HEREDITARY DISEASES
SENSE ORGANS DISEASES
GENOTYPE
GENES
RECESSIVE MUTATIONS
BIOLOGICAL MARKERS
COMPUTER CODES
STATISTICS
GENE RECOMBINATION