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| 2. |
- Dahl, N, et al.
(författare)
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DNA linkage analysis of X-linked retinoschisis.
- 1988
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Ingår i: Human Genetics. - 0340-6717 .- 1432-1203. ; 78:3, s. 228-32
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Tidskriftsartikel (refereegranskat)abstract
- Four families with juvenile retionoschisis (RS) have been studied by linkage analysis utilizing eleven polymorphic X-chromosomal markers. The results suggest a close linkage between DXS43, DXS41, and DXS208 and the RS locus at Xp22. The RS locus is distal to the OTC locus, DXS84, and the DMD locus but proximal to DXS85. No recombination events were observed between the RS locus and DXS43 and DXS41. The maximum likelihood estimate of the recombination fraction (theta) was thus zero and the peak lod scores (z) were 4.98 (DXS43) and 4.09 (DXS41). The linkage data suggest that the gene order on Xp is DXS85-(DXS43, RS, DXS41)-DMD-DXS84-OTC.
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| 3. |
- Goonewardena, P, et al.
(författare)
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Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.
- 1986
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Ingår i: Clinical Genetics. - 0009-9163 .- 1399-0004. ; 30:4, s. 249-54
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Tidskriftsartikel (refereegranskat)abstract
- Fragile-X mental retardation (FRAX-MR) is one of the more common X-linked disorders affecting 1 in 1,500 newborn males. This disease is characterized by the expression of fragile site in the region q27.3 of the X-chromosome of affected boys when their lymphocytes are cultured in folate deficient medium. In most patients there is macroorchidism postpubertally. The clinical diagnosis of carrier females based on the expression of fragile site in Xq27.3 is usually difficult and sometimes impossible. About half of the carrier females escape diagnosis by this method. Furthermore, prenatal diagnosis is not always feasible. Using Restriction Fragment Length Polymorphism (RFLP) and cloned DNA segments from the region Xq27-Xqter as probes, we have investigated Swedish families with FRAX-MR in three generations. Interesting observations, previously unreported to our knowledge, have been made in some patients and carrier mothers, using one of the probes which is localized to the distal end of Xq. The significance of these findings and the linkage of the disease locus to the different probes used in this study is presented.
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| 4. |
- Lathrop, G M, et al.
(författare)
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Tests of gene order from three-locus linkage data.
- 1987
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Ingår i: Annals of Human Genetics. - 0003-4800 .- 1469-1809. ; 51:Pt 3, s. 235-49
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Tidskriftsartikel (refereegranskat)abstract
- Exact tests for gene order are derived and compared for three loci using linkage data from phase-known, completely informative marker loci (i.e. parents are heterozygotes with at most one allele identical at each locus), or from triple back-cross matings. A simulation method, based on resampling genotypes of children, is introduced to obtain approximations to the distribution of the test statistics for general mating types in families consisting of children and parents, with or without grandparents, as are used in many studies in human gene mapping. The method is illustrated by an application to linkage data on chromosome 13.
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