TY - JOUR
T1 - A combined genetic and radiation hybrid map surrounding the treacher collins syndrome locus on chromosome 5q
AU - Loftus, Stacie K.
AU - Edwards, Sara J.
AU - Scherpbier-heddema, Titia
AU - Buetow, Kenneth H.
AU - Wasmuth, John J.
AU - Dixon, Michael J.
N1 - Funding Information:
We thank Drs K.Klinger, G.Landes and Y.Nakamura for kindly providing cosmids. The technical support of Ms Ulla Bengtsson, Amanda Gladwin and Helen Sudwonh is acknowledged. We thank the Treacher Collins families for their interest and co-operation, without which the present study would not have been possible. We should also like to thank those clinicians who collected samples on our behalf. The financial support of the Wellcome Trust (grant number 036797/Z/92/Z), the Medical Research Council (G9010336CB and G9204430), the National Center for Human Genome Research (NTH, USA grant number HGG0326-04 and HGO0835), the Hearing Research Trust and the Independent Order of Odd Fellows, Nuffield Foundation and the Oral and Dental Research Trust is gratefully acknowledged.
PY - 1993/11
Y1 - 1993/11
N2 - The distal region of chromosome 5q contains a large number of genes, including those implicated in a variety of Mendelian disorders. One of these, Treacher Collins syndrome (TCOF1), is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Previous studies have localized the TCOF1 locus between D5S519 (proximal) and SPARC (distal). To more accurately define the genetic distance between these markers, and to extend a high resolution genetic map of 5q31 - 33 to include additional highly informative markers, 15 loci (including polymorphisms for 4 known genes) were mapped through the Centre d'Etude du Polymorphisme Humain reference pedigrees. The resulting genetic map encompasses 29 cM on the sex-averaged map. To help integrate this linkage map with a physical map of the region, 13 loci from 5q31 - 33, including 6 genes, were used to construct a radiation hybrid map. As eight of the loci are common to both maps this has allowed us to combine the maps. The most likely location for the TCOF1 locus within this marker framework is in the D5S519-SPARC interval; a region estimated to be approximately 880 kb.
AB - The distal region of chromosome 5q contains a large number of genes, including those implicated in a variety of Mendelian disorders. One of these, Treacher Collins syndrome (TCOF1), is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Previous studies have localized the TCOF1 locus between D5S519 (proximal) and SPARC (distal). To more accurately define the genetic distance between these markers, and to extend a high resolution genetic map of 5q31 - 33 to include additional highly informative markers, 15 loci (including polymorphisms for 4 known genes) were mapped through the Centre d'Etude du Polymorphisme Humain reference pedigrees. The resulting genetic map encompasses 29 cM on the sex-averaged map. To help integrate this linkage map with a physical map of the region, 13 loci from 5q31 - 33, including 6 genes, were used to construct a radiation hybrid map. As eight of the loci are common to both maps this has allowed us to combine the maps. The most likely location for the TCOF1 locus within this marker framework is in the D5S519-SPARC interval; a region estimated to be approximately 880 kb.
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U2 - 10.1093/hmg/2.11.1785
DO - 10.1093/hmg/2.11.1785
M3 - Article
C2 - 8281138
AN - SCOPUS:0027430085
SN - 0964-6906
VL - 2
SP - 1785
EP - 1792
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 11
ER -