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Assignment of the gene for dyskeratosis congenita to Xq28

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Assignment of the gene for dyskeratosis congenita to Xq28. / Connor, J. M.; Gatherer, D.; Gray, F. C. et al.
In: Human Genetics, Vol. 72, No. 4, 04.1986, p. 348-351.

Research output: Contribution to Journal/Magazine › Journal article › peer-review

Harvard

Connor, JM, Gatherer, D, Gray, FC, Pirrit, LA & Affara, NA 1986, 'Assignment of the gene for dyskeratosis congenita to Xq28', Human Genetics, vol. 72, no. 4, pp. 348-351. https://doi.org/10.1007/BF00290963

APA

Connor, J. M., Gatherer, D., Gray, F. C., Pirrit, L. A., & Affara, N. A. (1986). Assignment of the gene for dyskeratosis congenita to Xq28. Human Genetics, 72(4), 348-351. https://doi.org/10.1007/BF00290963

Vancouver

Connor JM, Gatherer D, Gray FC, Pirrit LA, Affara NA. Assignment of the gene for dyskeratosis congenita to Xq28. Human Genetics. 1986 Apr;72(4):348-351. doi: 10.1007/BF00290963

Author

Connor, J. M. ; Gatherer, D. ; Gray, F. C. et al. / Assignment of the gene for dyskeratosis congenita to Xq28. In: Human Genetics. 1986 ; Vol. 72, No. 4. pp. 348-351.

Bibtex

@article{8078dce9d5434c84a3f2ac31e984390c,
title = "Assignment of the gene for dyskeratosis congenita to Xq28",
abstract = "Dyskeratosis congenita is an X-linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to neoplasia in early adult life. Linkage analysis was undertaken in an extensive family with the condition using the Xg blood group and 17 cloned X chromosomal DNA sequences which recognise restriction fragment length polymorphisms (RFLPs). No recombination was observed between the locus for dyskeratosis congenita (DKC) and the RFLPs identified by DXS52 (St14-1) (Zmax = 3.33 at theta max = 0 with 95% confidence limits of 0 to 14cM). Similarly no recombination was observed for the disease locus and F8 (Zmax = 1.23 at theta max = 0) nor for DXS15 (Zmax = 1.62 at theta max = 0), but both of these markers were only informative in part of the family whereas DXS52 was fully informative. DXS52, DXS15, and F8 are known to be tightly linked and have previously been assigned to Xq28. Thus the gene for dyskeratosis congenita can be assigned to Xq28. These DNA sequence polymorphisms will be of clinical value for carrier detection and prenatal diagnosis.",
keywords = "Adolescent, Adult, Child, Chromosome Mapping, DNA Restriction Enzymes, Female, Genes, Recessive, Genetic Linkage, Genetic Markers, Humans, Male, Middle Aged, Pedigree, Pigmentation Disorders, Skin Diseases, X Chromosome",
author = "Connor, {J. M.} and D. Gatherer and Gray, {F. C.} and Pirrit, {L. A.} and Affara, {N. A.}",
year = "1986",
month = apr,
doi = "10.1007/BF00290963",
language = "English",
volume = "72",
pages = "348--351",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "4",

}

RIS

TY - JOUR

T1 - Assignment of the gene for dyskeratosis congenita to Xq28

AU - Connor, J. M.

AU - Gatherer, D.

AU - Gray, F. C.

AU - Pirrit, L. A.

AU - Affara, N. A.

PY - 1986/4

Y1 - 1986/4

N2 - Dyskeratosis congenita is an X-linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to neoplasia in early adult life. Linkage analysis was undertaken in an extensive family with the condition using the Xg blood group and 17 cloned X chromosomal DNA sequences which recognise restriction fragment length polymorphisms (RFLPs). No recombination was observed between the locus for dyskeratosis congenita (DKC) and the RFLPs identified by DXS52 (St14-1) (Zmax = 3.33 at theta max = 0 with 95% confidence limits of 0 to 14cM). Similarly no recombination was observed for the disease locus and F8 (Zmax = 1.23 at theta max = 0) nor for DXS15 (Zmax = 1.62 at theta max = 0), but both of these markers were only informative in part of the family whereas DXS52 was fully informative. DXS52, DXS15, and F8 are known to be tightly linked and have previously been assigned to Xq28. Thus the gene for dyskeratosis congenita can be assigned to Xq28. These DNA sequence polymorphisms will be of clinical value for carrier detection and prenatal diagnosis.

AB - Dyskeratosis congenita is an X-linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to neoplasia in early adult life. Linkage analysis was undertaken in an extensive family with the condition using the Xg blood group and 17 cloned X chromosomal DNA sequences which recognise restriction fragment length polymorphisms (RFLPs). No recombination was observed between the locus for dyskeratosis congenita (DKC) and the RFLPs identified by DXS52 (St14-1) (Zmax = 3.33 at theta max = 0 with 95% confidence limits of 0 to 14cM). Similarly no recombination was observed for the disease locus and F8 (Zmax = 1.23 at theta max = 0) nor for DXS15 (Zmax = 1.62 at theta max = 0), but both of these markers were only informative in part of the family whereas DXS52 was fully informative. DXS52, DXS15, and F8 are known to be tightly linked and have previously been assigned to Xq28. Thus the gene for dyskeratosis congenita can be assigned to Xq28. These DNA sequence polymorphisms will be of clinical value for carrier detection and prenatal diagnosis.

KW - Adolescent

KW - Adult

KW - Child

KW - Chromosome Mapping

KW - DNA Restriction Enzymes

KW - Female

KW - Genes, Recessive

KW - Genetic Linkage

KW - Genetic Markers

KW - Humans

KW - Male

KW - Middle Aged

KW - Pedigree

KW - Pigmentation Disorders

KW - Skin Diseases

KW - X Chromosome

U2 - 10.1007/BF00290963

DO - 10.1007/BF00290963

M3 - Journal article

C2 - 3009302

VL - 72

SP - 348

EP - 351

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 4

ER -