Complex segregation analysis of nonsyndromic cleft lip and palate

Jacqueline T. Hecht, Ping Yang, Virginia V. Michels, Kenneth Buetow

Research output: Contribution to journalArticle

51 Citations (Scopus)

Abstract

This study was undertaken to examine the inheritance pattern of nonsyndromic cleft lip with or without cleft palate (CL/P). Complex segregation analysis using the unified model as in POINTER and the regressive model as in REGD programs were applied to analyze a midwestern U.S. Caucasian population of 79 families ascertained through a proband with CL/F. In REGD, the dominant or codominant Mendelian major locus models of inheritance were the most parsimonious fit. In POINTER, besides the Mendelian major locus model, the multifactorial threshold (MF/T) model and the mixed model were also consistent with the observed data. However, the high heritability parameter of .93 (SD .063) in the MF/T model suggests that any random exongenous factors are unlikely to be the underlying mechanisms, and the mixed model indicates that this high heritability is accounted for by a major dominant locus component. These findings indicate that the best explanation for the etiology of CL/P in this study population is a putative major locus associated with markedly decreased penetrance. Molecular studies may provide further insight into the genetic mechanism underlying CL/P.

Original languageEnglish (US)
Pages (from-to)674-681
Number of pages8
JournalAmerican Journal of Human Genetics
Volume49
Issue number3
StatePublished - Sep 1991
Externally publishedYes

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Cleft Palate
Inheritance Patterns
Penetrance
Cleft Lip
Population
Orofacial Cleft 1

ASJC Scopus subject areas

  • Genetics

Cite this

Complex segregation analysis of nonsyndromic cleft lip and palate. / Hecht, Jacqueline T.; Yang, Ping; Michels, Virginia V.; Buetow, Kenneth.

In: American Journal of Human Genetics, Vol. 49, No. 3, 09.1991, p. 674-681.

Research output: Contribution to journalArticle

Hecht, Jacqueline T. ; Yang, Ping ; Michels, Virginia V. ; Buetow, Kenneth. / Complex segregation analysis of nonsyndromic cleft lip and palate. In: American Journal of Human Genetics. 1991 ; Vol. 49, No. 3. pp. 674-681.
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