Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.

Abstract:

:The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping families from the Centre d'Etude du Polymorphisme Humaine enabled these loci and FSHD to be placed in the following order: cen-D4S171-factor XI-D4S163-D4S139-FSHD-qter. One interval, D4S171-FSHD, showed significant sex-specific differences in recombination. Homogeneity tests supported linkage of FSHD to these 4q DNA markers in all of the families we studied. The position of FSHD is consistent with that generated by other groups as members of an international FSHD consortium.

journal_name

Am J Hum Genet

authors

Weiffenbach B,Bagley R,Falls K,Hyser C,Storvick D,Jacobsen SJ,Schultz P,Mendell J,Willems van Dijk K,Milner EC

subject

Has Abstract,Author List Incomplete

pub_date

1992-08-01 00:00:00

pages

416-23

issue

2

eissn

0002-9297

issn

1537-6605

journal_volume

51

pub_type

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