Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families

Diego F. Wyszynski, Nancy Maestri, Iain McIntosh, E. Anne Smith, Amy F. Lewanda, Constanza Garcia-Delgado, Enrique Vinageras-Guarneros, Eric Wulfsberg, Terri H. Beaty

Research output: Contribution to journalArticlepeer-review

Abstract

It has been reported that BCL3 on chromosome 19q, or a nearby gene, may play a role in the etiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) in some families. We tested 30 USA and 11 Mexican multiplex NSCL/P families for four markers on chromosome 19q: D19S178, APOC2/AC1, APOC2/007, and BCL3. While likelihood-based linkage analysis failed to show significant evidence of linkage, the transmission disequilibrium test indicated highly significant deviation from independent assortment of allele 3 at the BCL3 marker in both data sets (USA: P = 0.001; Mexican: P = 0.018; both combined: P < 0.001) and for allele 13 of the D19S178 marker in the Mexican data set (P = 0.004). These results support an association, possibly due to linkage disequilibrium, between chromosome 19 markers and a putative NSCL/P locus.

Original languageEnglish (US)
Pages (from-to)22-26
Number of pages5
JournalHuman genetics
Volume99
Issue number1
DOIs
StatePublished - Dec 1996

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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