title: [Molecular genetic diagnosis in X chromosome-linked retinitis pigmentosa].
abstract: Retinitis pigmentosa (RP) is the most common hereditary dystrophic disease of the retina. About 10% of the affected families show the X-linked trait. The close link observed between the gene locus (RP2) and a polymorphic DNA marker (DXS7) on the proximal short arm of the X-chromosome permits an indirect genotype diagnosis and can be helpful in carrier detection and genetic counseling. A case is presented in which the carrier risk of a female consultant dropped from 50% a priori to less than 2% by the use of clinical findings and DNA analysis.
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012307:Risk Factors; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA
vernacular_title: Molekulargenetische Diagnostik bei X-chromosomal vererbter Retinitis pigmentosa.