This is a report concerning a concurrent case of hemoglobin J Iran (Hb J Iran) and Hemoglobin H (Hb H) disease in an Iranian woman. The patient was coincidentally found during the course of routine pre-marital genetic counselling for her son. The diagnosis of heterozygote Hb J Iran for her son, ultimately led to the diagnosis of concurrent Hb J Iran and Hb H disease. The hematological examinati...

PURPOSE To investigate the genotype and phenotype in families with adenosine triphosphate-binding cassette, sub-family A, member 4 (ABCA4)-associated retinal degeneration. METHODS Three families with at least one family member with known homozygous or compound heterozygote mutations in the ABCA4 gene were studied. The investigations included full field electroretinography (ff-ERG), multifocal...

Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...

In lowland Cobs butterflies, genotypes of the enzyme phosphoglucose isomerase (PGI) show major differences in molecular function, from which genotypic differences in organismal performance and fitness components in the wild are accurately predictable. The alpine species Colias meadii seems to share electromorph alleles with lowland congeners at PGI and phosphoglucomutase (PGM). However, high-re...

It has been assumed that in piebald lethal mice that develop megacolon, impaired colonic motor activity is restricted to the aganglionic distal colon. Peristaltic mechanical recordings, immunohistochemistry, and quantitative PCR were used to investigate whether regions of the colon, other than the aganglionic segment, may also show anatomical modifications and dysfunctional colonic motor activi...

Peripheral nerve regeneration following injury occurs spontaneously, but many of the processes require metabolic energy. The mechanism of energy supply to axons has not previously been determined. In the central nervous system, monocarboxylate transporter 1 (MCT1), expressed in oligodendroglia, is critical for supplying lactate or other energy metabolites to axons. In the current study, MCT1 is...

Abstract Background Polymorphism A1298C of the methylenetetrahydrofolate-reductase (MTHFR) gene has been implicated in spontaneous abortion. In this study, we determined the allele and genotype frequencies of this polymorphism in recurrent spontaneous abortion (RSA) and implantation failure after in vitro fertilization (IVF). Materials and Methods We performed a case–control study on 60 wom...