WITHDRAWN:Genetic diversity and effect of selection at the mitochondrial hypervariable region in major Nigerian indigenous goat breeds.

Mitochondrial DNA (mtDNA) hypervariable region 1 ( HV1) sequences of three Nigerian indigenous goat breeds; West African Dwarf (WAD), Red Sokoto (RS) and Sahel were used to investigate the genetic diversity and effect of selection between and among these populations. Deoxyribonucleic acid (DNA) of Nigerian indigenous chicken was extracted from blood samples collected and preserved on Fast Technology for Analysis (FTA) paper. The extracted DNA were amplified and sequenced with predefined mitochondria (mtDNA) primer sets for HV1. Eighty-seven (87) polymorphic sites were found in 115 sequences which were grouped into 92 haplotypes. The mean haplotypic and nucleotide diversity were found to be 0.996±0.002 and 0.092±0.04 respectively. Genetic variation within population and between populations accounted for 97.26% and 2.74% of the total maternal variation respectively, with FST value of 0.0274. The Tajima's (D) and Fu's (F) test of neutrality were significant (P<0.05) and negative with the mean value of -1.12 and -21.34 respectively which is an indication of population expansion. The result further revealed that the WAD and RS goats are closely related with less genetic distance value of 0.01, and high genetic distance value (0.02) was observed between RS and Sahel goats and WAD and Sahel goats. Selection analysis result shows that there is more positive selection site (6 sites) to negative site (5 sites) among the Nigerian goats, which signifies how diverse they are as well as how nature has being trying to confer genetic fitness to these breeds.

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

OBJECTIVE: To evaluate difficulties encountered in genetic counseling in deaf children carrying connexin 26 gene (CX26 or GJB2) mutations. DESIGN: Prospective study. SETTING: Outpatients, tertiary referral center. PATIENTS: Ninety-six unrelated deaf children in whom CX26 mutations had been detected consecutively. Children were recruited to a center for genetic counseling for deaf children, and all had congenital deafness, sporadic or familial. RESULTS: In 63 children, deafness was clearly a DFNB1 form with autosomal recessive inheritance: 47 of the 63 were homozygous for the most frequent mutation, the deletion of G at position 35 (35delG); 16 of 63 carried on both alleles of CX26 frameshift or stop mutations, or missense mutations affecting a critical region of the gene. In 33 of 96 children, genetic counseling was difficult: 21 of 33 had a single mutation detected, 11 of 33 had new missense mutations or mutations whose pathogenicity remains debated in the literature, and 1 of 33 had a genotype with both a recessive mutation (35delG) and a mutation acting as a dominant mutation. CONCLUSIONS: Interpretation of results for the molecular diagnosis of mutations in the connexin 26 gene is difficult in almost one third of cases. Close collaboration between geneticists familiar with deafness and otolaryngologists is essential to provide a high standard of genetic advice.

[Self dialysis: a new method of treatment for end-stage renal disease]. / Auto-dialyse: une nouvelle formule de traitement de l'insuffisance rénale chronique terminale.

Self-hemodialysis in a limited-care facility could be a good alternative for patients who are reluctant to home dialysis for several reasons. Through reduction of nursing personnel and elimination of physician attention at each dialysis, self-hemodialysis in a limited-care facility, where the patient dialyses himself and cleans his own machine without assistance, has reduced the cost to about one-half of center cost. From March 1980 to December 1982, out of 65 dialysed patients from Beauce and Perche Area, 33 patients were treated in the Hemodialysis Unit-Chartres Hospital (50.8%), only 5 were on home dialysis (7.6%), 15 were on CAPD (23.1%) and 12 were on self-hemodialysis in a limited-care facility (18.5%). Self-hemodialysis is a practical addition to various modalities treating end-stage renal disease and, in our experience, full compliance to the dialysis regimen was achieved in all patients.