Genetic variation in transforming growth factor alpha: possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate

A Locus in 2p13–p14 (OFC2), in Addition to That Mapped in 6p23, Is Involved in Nonsyndromic Familial Orofacial Cleft Malformation

“…methods as reported before (Basart et al, 1994). DNA samples were Different data were recently reported by two other denatured at 94ЊC for 30 s, annealed at 57ЊC for 20 s, and extended at 72ЊC for 10 s. For D2S134 the annealing temperature was at groups (Hecht et al, 1993;Vintiner et al, 1993), who 58ЊC and for D2S380 and TGFA TaqI 59ЊC. All amplifications were found no linkage between OFC and the 6p region (beprocessed through 35 cycles.…”

“…Indeed, some authors conuntil now, probably due to the presence of genetic het-firmed this association (Chenevix-Trench et al, 1991, erogeneity and the small sample size analyzed. Pre-1992; Holder et al, 1992; Sassani et al, 1993; Jara et viously, we employed a collection of 38 OFC families al., 1995), while others found association only with the to demonstrate linkage to the 6p23 chromosome region severity of the cleft (Stoll et al, 1993;Field et al, 1994). with the presence of genetic heterogeneity.…”

No Evidence of Linkage for Cleft Lip with or without Cleft Palate to a Marker Near the Transforming Growth Factor Alpha Locus in Two Populations

“…Since then, seven pub lished articles present a positive association between TGFa and oral clefts [27][28][29][30][31][32][33]. while four others [34][35][36][37] failed to confirm Ardinger's original results.…”

Transforming Growth Factor-α (TGFA): Genomic Structure, Boundary Sequences, and Mutation Analysis in Nonsyndromic Cleft Lip/Palate and Cleft Palate Only

“…Ardinger et al (1989) provided the first evidence for association between specific TGFA alleles and NS-CL/P in a Caucasian population (Iowa). Since then, several groups have confirmed this association in various Caucasian populations: Australian (ChenevixTrench et al, 1991), British , French (Stoll et al, 1992), and another U.S. population (Pennsylvania; Sassani et al, 1993). Feng et al (1994) succeeded in a family-based study using the transmission/disequilibrium test, and Pezzetti et al (1998) showed association as well as interaction with 6p23 loci.…”

“…Ardinger et al (1989) reported the first evidence for association of specific alleles of TGFA and NS-CL/P. Subsequently, several studies have confirmed this association in Caucasian populations (Chenevix-Trench et al, 1991;Holder et al, 1992;Stoll et al, 1992;Sassani et al, 1993;Feng et al, 1994) and one in a Chilean Caucasoid-Mongoloid population (Jara et al, 1995). Moreover, Shiang et al (1993) have reported evidence for an association between TGFA and NS-CPO, and Pezzetti et al (1998) have reported evidence for an interaction of the TGFA locus with 6p23.…”