Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

Article Abstract:

Nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) are representative of complex genetic traits. Disease loci of CP/P and CPO can be hypothesized to be identified by a candidate-gene linkage-disequilibrium (LD) strategy. Candidate genes for clefting have been screened for LD with either CL/P or CPO in a population mainly Caucasian. Both case-control- and nuclear-family-based approaches were used. No common mutations were found in the coding regions in a mutation search in certain genes in 69 CPO patients and in a group within the larger group of CL/P patients. Several rare variants of MSX1 and TGFB3 were found. Results are a foundation for further research.

Usage, Chromosome mapping, Genetic disorders, Linkage (Genetics), Cleft lip, Cleft palate

---

Identification of risk-related haplotypes with the use of multiple SNPs from nuclear families

Article Abstract:

A simple and general method is proposed for testing the association of a disease trait with multiple SNP markers and for nominating a set of risk-haplotype-tagging alleles. The data from orofacial cleft study is used for investigating both fetal and maternal effects of the IRF6 gene.

Science & research, Genetic research, Haplotypes, Single nucleotide polymorphisms, Nuclear family

---

Similar abstracts:

• Abstracts: Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear
• Abstracts: Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. Histone lysine trimethylation exhibits a distinct perinuclear distribution in Plzf-expressing spermatogonia
• Abstracts: Mineralization of paraoxon and its use as a sole C and P source by a rationally designed catabolic pathway in Pseudomonas putida
• Abstracts: Analysis of cytoskeletal and motility proteins in the sea urchin genome assembly
• Abstracts: Antisense transcription controls cell fate in Saccharomyces cerevisiae. Degradation-mediated protein quality control in the nucleus

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.