BACKGROUND Cystic fibrosis is a monogenic recessive disorder found predominantly in Caucasian population. This disease arises from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this study we consider poly T polymorphism c.1210-12T[5], c.1210-12T[7], c.1210-12T[9] (T{5}, T{7}, T{9}) in the intron 8 of CFTR gene in normal individuals and cystic fibrosis pati...

UNLABELLED In the present study, we analysed the association between the incidence of tuberculous spondylitis with the Natural Resistance Associated Macrophage Protein 1 (NRAMP1, also known as Solute Carrier Family 11a member1) polymorphism by studying the genetic segregation of this polymorphism and the incidence of the disease among members of the West Javanese population undergoing surgery f...

The aim of this study was to examine the feasibility of using an economic and practical method in order to perform non-invasive prenatal testing of thalassemia as a sing gene disorder.Sixteen (16) pregnant mothers in the 11th week of pregnancy who were referred for prenatal diagnosis of thalassemia were selected. The parents had one of IVSII-1, IVSI-5 or FR codon 8/9 mutations. Enrichment of cf...

Identification of polymorphism is the key for genetic mapping, diagnosis and marker-assisted selection. Restriction fragment-length polymorphisms (RFLPs) and short tandem repeats (STRs), also known as microsatellites, are commonly used genetic markers. Until discovery of STRs, RFLPs were used for genetic mapping, but bi-allelic polymorphism of RFLP limited its use as a marker. Although STRs are...

Polymorphism, along with inheritance, is one of the most important features in object-oriented languages, but it is also one of the biggest obstacles to source code comprehension. Depending on the run-time type of the receiver of a message, any one of a number of possible methods may be invoked. Several algorithms for creating accurate call-graphs using static analysis already exist, however, t...

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease characterized by immunodeficiency and severe thrombocytopenia in affected males, but no demonstrable clinical abnormalities in carrier females. Through analysis of the methylation patterns of X-linked genes that display restriction fragment length polymorphisms (RFLPs), we studied the pattern of X-chromosome inactivation in var...

Serum creatine kinase, myoglobin, and percentage lymphocyte capping was determined in ten patients with Duchenne muscular dystrophy, 12 carriers (nine definite and three probable), 16 other female relatives, and eight normal controls. There was no detectable difference in lymphocyte capping ability between any of these clinical groups. Significant myoglobinaemia was present in all the affected ...

Sir, I read with interest the paper by Mollica et al.1 and should like to add the results of our prospective study for comparison with other Mediterranean countries on 37 HBsAg mothers who were found among 1002 pregnant women attending a maternity hospital. Although 3.7% of the mothers were positive for HBsAg, only in 0. 1 % of cord blood specimens was HBsAg demonstrable by counter electrophore...