A genetic linkage study of a kindred with X-linked retinitis pigmentosa.
نویسندگان
چکیده
A large kindred with X-linked retinitis pigmentosa (XLRP) was investigated clinically and by means of genetic linkage with a view to developing methods of carrier detection and early diagnosis. A restriction fragment length polymorphism, identified by recombinant DNA probe L1.28, showed close genetic linkage to XLRP in this kindred and is a potentially useful marker for the purposes of genetic counselling.
منابع مشابه
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
Genetic linkage and deletion studies have led to the proposal that there are at least two loci on the X chromosome which are responsible for X linked retinitis pigmentosa (XLRP). One locus (RP3) has been closely defined by genetic linkage and deletion analyses and localised to the region between the ornithine transcarbamylase (OTC) and chronic granulomatous disease (CYBB) loci in Xp21.1-p11.4. ...
متن کاملA novel locus for X-linked retinitis pigmentosa.
INTRODUCTION Retinitis pigmentosa (RP) is the most prevalent group of inherited retinopathies and demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and to identify the disease-causing gene/locus. MATERIALS AND METHODS Ophthalmic exa...
متن کاملRetinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.
Three families with retinitis pigmentosa (RP) are described in which the disorder shows apparent X linked inheritance but does not show linkage to the RP2 and RP3 regions of the short arm of the X chromosome. The families are also inconsistent with a localisation of the disease gene between DXS164 and DXS28. In one case, reassessment of the family in the light of these results suggested that th...
متن کاملDominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.
Retinitis pigmentosa (RP) is a group of progressive hereditary disorders of the retina in which various modes of inheritance have been described. The X linked forms of retinitis pigmentosa (XLRP, MIM 268000) are among the most severe owing to their early onset, leading to significant vision loss before the fourth decade. Five XLRP loci have been localised by linkage: RP2 (MIM 312600), RP3 (MIM ...
متن کاملClinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.
AIMS/BACKGROUND To characterise clinically a large kindred segregating retinitis pigmentosa and sensorineural hearing impairment in an autosomal dominant pattern and perform genetic linkage studies in this family. Extensive linkage analysis in this family had previously excluded the majority of loci shown to be involved in the aetiologies of RP, some other forms of inherited retinal degeneratio...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 69 5 شماره
صفحات -
تاریخ انتشار 1985