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.
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.
Wyszynski
D F
DF
Department of Epidemiology, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, MD 21205, USA. dfw@welchlink.welch.jhu.edu
Maestri
N
N
McIntosh
I
I
Smith
E A
EA
Lewanda
A F
AF
Garcia-Delgado
C
C
Vinageras-Guarneros
E
E
Wulfsberg
E
E
Beaty
T H
TH
D000081242:B-Cell Lymphoma 3 Protein; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D002971:Cleft Lip / Q000150:complications / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D005190:Family; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008126:Lod Score; D008297:Male; D008800:Mexico; D011336:Probability; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014157:Transcription Factors; D014481:United States
D000081242:B-Cell Lymphoma 3 Protein; C000631344:BCL3 protein, human; D005819:Genetic Markers; D011518:Proto-Oncogene Proteins; D014157:Transcription Factors