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Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate

Journal Article · · American Journal of Human Genetics
OSTI ID:56840
; ;  [1]; ;  [2];  [3];  [4]; ; ;  [5]
  1. Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)
  2. Children`s Hospital of Philadelphia, PA (United States)
  3. Fox Chase Cancer Center, Philadelphia, PA (United States)
  4. Univ. of Texas Medical School, Houston, TX (United States)
  5. Univ. of London (United Kingdom)

The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus. 30 refs., 1 fig., 2 tabs.

OSTI ID:
56840
Journal Information:
American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 5 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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