Research output: Contribution to Journal/Magazine › Meeting abstract › peer-review
Research output: Contribution to Journal/Magazine › Meeting abstract › peer-review
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TY - JOUR
T1 - Assignment of the gene for dyskeratosis congenita to XQ28
AU - Gatherer, Derek
AU - Gray, F. C.
AU - Pirrit, L. A.
AU - Affara, N.
AU - Connor, J. M.
PY - 1986/10
Y1 - 1986/10
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 extensivefamily 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 (Stl4-1) (Zmax=3.33 at 8max=0 with 95% confidence limits of 0 to 14 cM). Similarly no recombination was observed for the disease locus and F8 (Zmax=1-23 at 8max=0) nor for DXSJ5 (DX13) (Zmax=1-62 at 8max=0), but both of these markers wereonly informative in part of the family whereas DXS52 was fully informative. DXS52, DXSJ5, 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 extensivefamily 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 (Stl4-1) (Zmax=3.33 at 8max=0 with 95% confidence limits of 0 to 14 cM). Similarly no recombination was observed for the disease locus and F8 (Zmax=1-23 at 8max=0) nor for DXSJ5 (DX13) (Zmax=1-62 at 8max=0), but both of these markers wereonly informative in part of the family whereas DXS52 was fully informative. DXS52, DXSJ5, 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.
U2 - 10.1136/jmg.23.5.468
DO - 10.1136/jmg.23.5.468
M3 - Meeting abstract
VL - 23
SP - 473
EP - 473
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 5
ER -