Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families

Mary L. Marazita, L. Leigh Field, Margaret E. Cooper, Rose Tobias, Brion S. Maher, Supakit Peanchitlertkajorn, You E. Liu

Research output: Contribution to journalArticlepeer-review

92 Scopus citations


Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly. Birth prevalences range from 1/500 to 1/1,000 and are consistently higher in Asian populations than in populations of European descent. Therefore, it is of interest to determine whether the CL/P etiological factors in Asian populations differ from those in white populations. A sample of 36 multiplex families were ascertained through probands with CL/P who were from Shanghai. This is the first reported genome-scan study of CL/P in any Asian population. Genotyping of Weber Screening Set 9 (387 short tandem-repeat polymorphisms with average spacing ∼9 cM [range 1-19 cM]) was performed by the Mammalian Genotyping Service of Marshfield Laboratory. Presented here are the results for the 366 autosomal markers. Linkage between each marker and CL/P was assessed by two-point and multipoint LOD scores, as well as with multipoint heterogeneity LOD scores (HLODs) plus model-free identity-by-descent statistics and the multipoint NPL statistic. In addition, association was assessed via the transmission/disequilibrium test. LOD-score and HLOD calculations were performed under a range of models of inheritance of CL/P. The following regions had positive multipoint results (HLOD ≥1.0 and/or NPL P ≤. 05): chromosomes 1 (90-110 cM), 2 (220-250 cM), 3 (130-150 cM), 4 (140-170 cM), 6 (70-100 cM), 18 (110 cM), and 21 (30-50 cM). The most significant multipoint linkage results (HLOD ≥2.0; α = 0.37) were for chromosomes 3q and 4q. Associations with P ≤. 05 were found for loci on chromosomes 3, 5-7, 9, 11, 12, 16, 20, and 21. The most significant association result (P =. 009) was found with D16S769 (51 cM).

Original languageEnglish (US)
Pages (from-to)349-364
Number of pages16
JournalAmerican journal of human genetics
Issue number2
StatePublished - 2002
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families'. Together they form a unique fingerprint.

Cite this