We are analyzing https://link.springer.com/article/10.1007/bf00279095.

Title:
Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity | Human Genetics
Description:
X-linked agammaglobulinemia (XLA) is a severe humoral immunodeficiency disease of man. The inheritance of the disease is X-linked recessive. Female carriers can not be distinguished by immunologic assays. We investigated the localization of the disease gene on the X chromosome, utilizing nine polymorphic X chromosomal markers. In a single eight generation pedigree we found close linkage of the disease gene to the restriction fragment length polymorphism (RFLP) recognized by the DNA probe p19-2; the maximum lod score was 3.30 at a recombination fraction of 0.06. Addition of the lod scores for p19-2 obtained from seven other XLA pedigrees did not show the expected increase of the total score. This suggested genetic heterogeneity. We used the p19-2 marker as a reference point to search for pedigrees which had the disease gene at a different location. One pedigree provided a lod score of-3.14 at a recombination fraction of 0.06 with the p19-2 marker. We postulate that XLA is not a single genetic entity.
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Topics {✒️}

month download article/chapter found close linkage chromosomal markers reveal high-frequency rflps insulin-dependent diabetes mellitus van ommen g-jb genetic linkage map cell lines derived single-copy sequence hybridizes suggested genetic heterogeneity a-mulv-transformed cells comprehensive genetic testing single genetic entity human gene mapping x-linked agammaglobulinemia patients x-chromosome dna sequences genetic heterogeneity clinical genetics privacy choices/manage cookies x-chromosome mapping full article pdf cold spring harbor human linkage studies cloned dna sequence x-linked agammaglobulinemia duchenne muscular dystrophy disease gene x-linked recessive primary immunodeficiency disorders dna fragments separated genetic epidemiology european economic area scope submit manuscript van de greef 8th international workshop lawton ar iii antibody-deficiency states attached vh region university medical center van de greef human bone marrow conditions privacy policy check access instant access dna probe p19-2 immunoglobulin gene rearrangement p19-2 marker light chain genes university hospital dijkzigt accepting optional cookies

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            Chromosomal Marker
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            Gene Function
            Metabolic Diseases
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      headline:Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity
      description:X-linked agammaglobulinemia (XLA) is a severe humoral immunodeficiency disease of man. The inheritance of the disease is X-linked recessive. Female carriers can not be distinguished by immunologic assays. We investigated the localization of the disease gene on the X chromosome, utilizing nine polymorphic X chromosomal markers. In a single eight generation pedigree we found close linkage of the disease gene to the restriction fragment length polymorphism (RFLP) recognized by the DNA probe p19-2; the maximum lod score was 3.30 at a recombination fraction of 0.06. Addition of the lod scores for p19-2 obtained from seven other XLA pedigrees did not show the expected increase of the total score. This suggested genetic heterogeneity. We used the p19-2 marker as a reference point to search for pedigrees which had the disease gene at a different location. One pedigree provided a lod score of-3.14 at a recombination fraction of 0.06 with the p19-2 marker. We postulate that XLA is not a single genetic entity.
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         Disease Gene
         Genetic Heterogeneity
         Close Linkage
         Chromosomal Marker
         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
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