backgroundcongenital generalized lipodystrophy (cgl) is a rare disease. it is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.case presentationwe report a 25- year- old female with 1-acylglycerol-3-phosphate-o-acyltransferase 2 (apgat2) mutation, and both sclerotic and lytic bone lesions together for the first time. bone cyst i...

mutations in the gjb2 gene are the most common known cause of hereditary congenital hearing loss. rapid genomic dna extraction (rgde) method was used for genomic dna extraction. after amplification of coding region of cx26 gene with specific primers, expected pcr products with 724bp length were subjected to direct sequencing in both directions. we describe here a novel heterozygous -t to -c tra...

chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...

• Mutation-selection balance at two linked loci can be fully investigated. Dynamics of loss wild-type alleles depend on the type epistasis. After Muller's ratchet clicks, a deleterious allele is fixed by selection. We report complete analysis deterministic model mutations and negative selection against them haploid without recombination. As long as mutation weaker force than selection, mutant r...