RESUMO
Nonsyndromic cleft lip with or without cleft palate is a common birth defect, affecting approximately 1 in 1,000 Caucasian newborns. Thirty-five multiplex families from the mid-Atlantic region of the United States and 22 families from central Mexico with a nonsyndromic form of cleft lip with or without cleft palate were selected for a linkage analysis. A tetranucleotide repeat marker (D2S443) located on the same yeast artificial chromosome as the transforming growth factor alpha locus was tested for linkage to a putative susceptibility Mendelian locus under varying levels of pentrance. No evidence for linkage between D2S443 and a susceptibility locus for cleft lip with or without cleft palate was found. Insight is given to explain this outcome in spite of the statistically significant associations found by other investigators.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Ligação Genética , Marcadores Genéticos , Fator de Crescimento Transformador alfa/genética , Mapeamento Cromossômico , Humanos , Repetições de MicrossatélitesRESUMO
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.
Assuntos
Cromossomos Humanos Par 19 , Fenda Labial/genética , Fissura Palatina/genética , Proteína 3 do Linfoma de Células B , Mapeamento Cromossômico , Fenda Labial/complicações , Fissura Palatina/complicações , Família , Feminino , Triagem de Portadores Genéticos , Ligação Genética , Marcadores Genéticos , Genótipo , Humanos , Desequilíbrio de Ligação , Escore Lod , Masculino , México , Probabilidade , Proteínas Proto-Oncogênicas/genética , Fatores de Transcrição , Estados UnidosAssuntos
Pé , Hipospadia/cirurgia , Retalhos Cirúrgicos , Adolescente , Humanos , Masculino , Uretra/irrigação sanguíneaRESUMO
The results of secondary nasal tip elongation in bilateral cleft lip were analyzed. Brown and Mc Dowell's, Cronin and Millard's techniques, were used in thirty-five patients, who were seen at the Cleft Lip and Palate Clinic at the Hospital Infantil de Mexico for a five year period (1970-1975). Such correction was performed in 16 patients following Brown and Mc Dowell's technique, 10 by Millard, 8 by Cronin's and just one by Abbe Stlander's technique. 60% of the patients were males and 40% were females. The follow-up control (5 years) was made in 30 patients; the results are shown.