PMID- 8488840
OWN - NLM
STAT- MEDLINE
DCOM- 19930607
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 52
IP  - 5
DP  - 1993 May
TI  - Narrowing the position of the Treacher Collins syndrome locus to a small interval 
      between three new microsatellite markers at 5q32-33.1.
PG  - 907-14
AB  - Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of 
      craniofacial development, the features of which include conductive hearing loss 
      and cleft palate. The TCOF1 locus has been localized to chromosome 5q32-33.2. In 
      the present study we have used the combined techniques of genetic linkage 
      analysis and fluorescence in situ hybridization (FISH) to more accurately define 
      the TCOF1 critical region. Cosmids IG90 and SPARC, which map to distal 5q, 
      encompass two and one hypervariable microsatellite markers, respectively. The 
      heterozygosity values of these three markers range from .72 to .81. Twenty-two 
      unrelated TCOF1 families have been analyzed for linkage to these markers. There 
      is strong evidence demonstrating linkage to all three markers, the strongest 
      support for positive linkage being provided by haplotyping those markers at the 
      locus encompassed by the cosmid IG90 (Zmax = 19.65; theta = .010). FISH to 
      metaphase chromosomes and interphase nuclei established that IG90 lies 
      centromeric to SPARC. This information combined with the data generated by 
      genetic linkage analysis demonstrated that the TCOF1 locus is closely flanked 
      proximally by IG90 and distally by SPARC.
FAU - Dixon, M J
AU  - Dixon MJ
AD  - Department of Cell and Structural Biology, University of Manchester, England.
FAU - Dixon, J
AU  - Dixon J
FAU - Houseal, T
AU  - Houseal T
FAU - Bhatt, M
AU  - Bhatt M
FAU - Ward, D C
AU  - Ward DC
FAU - Klinger, K
AU  - Klinger K
FAU - Landes, G M
AU  - Landes GM
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA, Satellite)
SB  - IM
MH  - Base Sequence
MH  - Centromere
MH  - Child
MH  - Chromosome Mapping/methods
MH  - *Chromosomes, Human, Pair 5
MH  - Cosmids
MH  - DNA, Satellite/analysis
MH  - Female
MH  - Genetic Linkage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Mandibulofacial Dysostosis/*genetics
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Polymerase Chain Reaction
PMC - PMC1682053
EDAT- 1993/05/01 00:00
MHDA- 1993/05/01 00:01
PMCR- 1993/11/01
CRDT- 1993/05/01 00:00
PHST- 1993/05/01 00:00 [pubmed]
PHST- 1993/05/01 00:01 [medline]
PHST- 1993/05/01 00:00 [entrez]
PHST- 1993/11/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1993 May;52(5):907-14.