Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip.

DNA samples from 100 patients with cleft lip with or without cleft palate (CL/P) were compared with those of 98 unaffected control individuals with respect to transforming growth factor alpha (TGFA) genotypes. Among the Caucasians in this population (83 CL/P, 84 controls), there was a significant difference in the restriction fragment length polymorphisms (RFLPs) observed after digestion with TaqI (chi 2 = 4.68, P = 0.03). The frequency of the C2 allele in the Caucasian CL/P population was 0.169, whereas that in the control group was 0.089. When the data for Caucasians, African-Americans, and Asians were examined jointly, the chi 2 value for the pooled sample was 5.08 (P = 0.02). This confirms the hypothesis of Ardinger et al. [1989, Am J Hum Genet, 45:348-353] that TFGA itself or a closely linked gene contributes to the development of CL/P in humans.

Comparative toxicity of polychlorinated biphenyls to earthworms Eisenia foetida and Lumbricus terrestris.

Effects of polychlorinated biphenyls (PCB; Aroclor 1254) in the manure worm, Eisenia foetida, on survival (LC50/LD50), and ability of coelomic leukocytes (also called coelomocytes) to form secretory rosettes (SR) and erythrocyte rosettes (ER) with, and to phagocytose antigenic rabbit red blood cells were determined and compared with those published for the earthworm, Lumbricus terrestris. Using a 5-day filter paper contact exposure protocol, LC50 and LD50 were 30.4 microg cm(-2) and 4500 microg g(-1) dry mass, respectively. Nominal PCB exposure concentrations of 5.0 and 10.0 microg cm(-2) resulted in tissue levels of 1400 and 2900 microg g(-1) dry mass. These body burdens resulted in significant reduction in SR formation by 18 and 52%, respectively. ER formation and phagocytosis were reduced 52 and 61%, respectively, only at the higher tissue concentration. Compared to L. terrestris, E. foetida: (1) accumulated considerably more PCB at each exposure concentration; (2) showed lower LC50, but higher LD50; and (3) exhibited effects on coelmocytes only at tissue PCB concentrations that caused some mortality. In terms of lethality and immunomodulation of SR, ER and phagocytosis, E. foetida appears to be more resistant to PCB than L. terrestris.

Vertical orbital dystopia: definition, classification and treatment.

Correction of vertical orbital dystopia is an important component part of providing facial symmetry in a number of conditions of varied etiology having facial imbalance and asymmetry. The most important step is the initial one of making a proper diagnosis, since some conditions represent globe dystopia rather than true orbital dystopia, and can be treated by extracranial procedures. However, if an intracranial procedure is felt indicated, it adds to the safety rather than the complexity of the procedure, and one should not hesitate advocating this to the patient.

Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate.

The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus.