Two Sisters with a Distal Deletion at the Xq26/Xq27 Interface: DNA Studies Indicate That the Gene Locus for Factor IX is Present

Overview

Journal Hum Genet

Specialty Genetics

Date 1987 May 1

PMID 3471705

Citations 9

Authors

C Schwartz

N Fitch

M C Phelan

C L RICHER

R Stevenson

Affiliations

Soon will be listed here.

Abstract

Two sisters with premature menopause and a small deletion of the long arm of one of their X chromosomes [del (X)(pter----q26.3:)] were investigated with polymorphic DNA probes near the breakpoint. The deleted chromosome retained the factor IX (F9) locus and the loci DXS51 (52A) and DXS100 (pX45h), which are proximal to F9. However, the factor VIII (F8) locus was not present, nor were two loci tightly linked to this locus, DXS52 (St14) and DXS15 (DX13). This deletion refines the location of the F9 locus to Xq26 or to the interface Xq26/Xq27, thus placing it more proximally than has been previously reported. The DNA obtained from these patients should be valuable in the mapping of future probes derived from this region of the X chromosome.

Citing Articles

Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

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The parental origin and mechanism of formation of three dicentric X chromosomes.

Phelan M, Prouty L, Stevenson R, Page D, Schwartz C Hum Genet. 1988; 80(1):81-4.

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Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

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Molecular pathology of haemophilia B.

Green P, Bentley D, MIBASHAN R, Nilsson I, Giannelli F EMBO J. 1989; 8(4):1067-72.

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Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm.

Roberts S, Upadhyaya M, Sarfarazi M, Harper P J Med Genet. 1989; 26(5):309-13.

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