Choroideremia : linkage analysis with physically mapped close DNA-markers

We report linkage studies in 18 choroideremia (TCD) families using four closely linked polymorphic markers. Probe pZ11, which is known to be deleted in several unrelated patients with TCD, showed no recombinations (zeta max 15.63 at theta = 0.00). In contrast, one recombination was observed with DXS...

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Bibliographic Details
Published in:Human genetics 1991-07, Vol.87 (3), p.348-352
Main Authors: SANKILA, E.-M, SISTONENE, P, CREMERS, F, DE LA CHAPELLE, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Choroideremia - genetics
DNA Probes
Female
Genetic Linkage
Humans
loci
Lod Score
Male
Medical sciences
Ophthalmology
Pedigree
Polymorphism, Restriction Fragment Length
Uvea diseases
X Chromosome
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Summary:We report linkage studies in 18 choroideremia (TCD) families using four closely linked polymorphic markers. Probe pZ11, which is known to be deleted in several unrelated patients with TCD, showed no recombinations (zeta max 15.63 at theta = 0.00). In contrast, one recombination was observed with DXS367, which is also physically very close to TCD. Loci DXS95 and DXYS69 each showed more than one recombination with TCD. Moreover, these analyses revealed a double crossover between TCD and DXYS1, changing the previously reported very close linkage to a recombination fraction of 0.04 with a lod score of 9.93. Multipoint linkage analysis placed TCD proximal to DXS95-DXYS69 and very close to DXS367-pZ11 with almost identical multipoint lod score maxima either proximal to DXS367 (zeta max = 23.43) or proximal to pZ11 (zeta max = 23.36). These results provide a refined linkage map around TCD and will also be useful in DNA diagnostics of the disease.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00200918