Linkage of PGK1 to X-linked Severe Combined Immunodeficiency (IMD4) Allows Predictive Testing in Families with No Surviving Male

Overview

Journal Hum Genet

Specialty Genetics

Date 1989 Dec 1

PMID 2606471

Citations 3

Authors

J Goodship

R Levinsky

S Malcolm

Affiliations

Soon will be listed here.

Abstract

We present a linkage map of DNA probes around the X-linked severe combined immunodeficiency (IMD4) locus at Xq11-13. DXS159 and PGK1 show no cross-overs with the disease locus (Lod 3.01 at theta = 0.00). The order of loci is DXS1-DXS106-(DXS159-PGK1-IMD4)-DXS72 -DXYS1. Members of families whose carrier status has been established by X-inactivation patterns were included in the analysis. As the probe (pSPT/PGK), which is used for investigation of X-inactivation patterns, has been shown to be linked to the disease itself, it is possible to assign phase in mothers of sporadic cases who have been shown to be carriers, even when they have no surviving male offspring.

Citing Articles

Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.

Lester T, De Alwis M, Clark P, Jones A, Katz F, Levinsky R J Med Genet. 1994; 31(9):717-20.

PMID: 7815443 PMC: 1050084. DOI: 10.1136/jmg.31.9.717.

Genetics of human X-linked immunodeficiency diseases.

Hendriks R, Schuurman R Clin Exp Immunol. 1991; 85(2):182-92.

PMID: 1863997 PMC: 1535742. DOI: 10.1111/j.1365-2249.1991.tb05702.x.

The molecular basis of X-linked immunodeficiency disease.

Kinnon C, Levinsky R J Inherit Metab Dis. 1992; 15(4):674-82.

PMID: 1528025 DOI: 10.1007/BF01799623.

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