introduction: cystic fibrosis (cf) is a common genetic disorder in white populations with an autosomal recessive pattern, caused by mutations in the cftr gene. the frequency of more than 1950 various mutations reported in the cftr gene significantly varies in different populations. ∆f508 is a common mutation in exon 10, which is first addressed in the molecular analysis of the disease. other ex...

The prevalence of nocturnal enuresis (wet at least two nights a week) was investigated in children, aged 8, who were being followed up as part of a prospective cohort study. There were 175 children with homozygous sickle cell disease, 106 with sickle cell haemoglobin C disease, and 150 controls with a normal haemoglobin genotype. In homozygous sickle cell disease, 48 boys (52%) and 31 girls (38...

BALB/cJ X C57BL/10Sn F1 (hereafter called B10F1) hybrids resist challenge with the BALB/c plasmacytoma, MPC-11, by a radiation-sensitive, silica-insensitive mechanism, whereas BALB/cJ X BALB.B F1 (hereafter called BALB.BF1) hybrids are as susceptible to MPC-11 as are homozygous BALB/c mice themselves. To investigate the mechanism of resistance, we have compared anti-MPC-11 immune responses by t...

Five BC₁ lines and 16 house fly mass-cross homozygous lines were generated from crosses of the pyrethroid resistant ALHF (wild-type) and susceptible aabys (bearing recessive morphological markers on each of five autosomes) strains. Each of the resulting homozygous lines had different combinations of autosomes from the resistant ALHF strain. Levels of resistance to permethrin were measured for e...

To elucidate the role of p53/p16/RB1 pathways in the tumorigenesis of primary central nervous system lymphomas (PCNSLs), we have analyzed p14, p16, RB1, p21, and p27 status in a series of their 18 sporadic cases of diffuse large B-cell lymphoma, using methylationspecific PCR, differential PCR, and immunohistochemistry. Homozygous deletion or methylation of p14 was detected in 10 (56%) PCNSLs, a...

Failure to express the Gimap5 protein is associated with lymphopenia (lyp) and linked to spontaneous diabetes in the diabetes-prone BioBreeding (BBDP) rat. Gimap5 is a member of seven related genes located within 150 Kb on rat chromosome 4. Congenic DR.(lyp/lyp) rats, where BBDP lyp was introgressed onto the diabetes-resistant BBDR background (BBDR.BBDP.(lyp/lyp)), all develop diabetes between ...