Purified alanine carrier proteins were cleaved into peptides either chemically after solubilization in 1,1,1,3,3,3-hexafluoro-2-propanol or proteolytically with lysylendopeptidase. From the amino acid sequence analyses of these peptides, we synthesized a DNA probe and utilized it for successful cloning of a gene encoding the alanine carrier protein (acp gene). The 5'-flanking region was determi...

A major proline carrier in Escherichia coli encoded by the putP gene mediates proline/Na+ or Li+ symport. Proline carrier mutants with altered cation specificity were obtained by mutagenesis with nitrous acid in vitro of a plasmid carrying the wild-type putP gene. Two mutant strains harboring plasmid pMOP4135 and pMOP4141 could transport proline efficiently only in the presence of an increased ...

We investigated a possible association between CASP-10 gene polymorphisms and susceptibility to cancer through a meta-analysis. Eight studies with a total of 29,936 cancer cases and 34,041 healthy controls were included. Meta-analysis results showed that the rs13006529 T carrier was significantly associated with increased cancer risk (OR = 1.17, 95%CI = 1.01-1.36, P = 0.03). However, rs3900115 ...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has been estimated to be 1:25 to 1:10 on the basis of newborn screening. The main objective of this study was to determine the carrier frequency in the Cypriot population of mutations in the CY...

Turbulence in two-phase flows drives many important natural and engineering processes, from geophysical to nuclear power generation. Strong interphase coupling between the carrier fluid disperse phase precludes use of classical turbulence models developed for single-phase flows. In recent years, there has been an explosion machine learning techniques closure modeling, though rely on augmenting ...

Deletions in the heparan sulphate proteoglycan encoding glypican 3 (GPC3) gene have recently been documented in several Simpson-Golabi-Behmel syndrome (SGBS) families. However, no precisely defined SGBS mutation has been published. We report here a 13 base pair deletion which causes a frameshift and premature termination of the GPC3 gene in the Dutch-Canadian SGBS family in whom the trait was o...

Southern blotting was performed with cDNA probes for the human von Willebrand factor (vWF) gene on six patients with severe type 111 von Willebrand’s disease (vWD). A partial deletion in the 3‘ end of the vWF gene was demonstrated in one individual whose parents were related and who had an alloantibody inhibitor to vWF. A resulting novel 2.0-kilobase (kb) EcoRl fragment was used for carrier det...

Single-Gene Disorders Invasive diagnostic prenatal (fetal) testing for molecular analysis for single-gene disorders may be considered medically necessary when a pregnancy has been identified as being at high risk: 1. For autosomal dominant conditions, at least 1 of the parents has a known pathogenic mutation. 2. For autosomal recessive conditions: a. Both parents are suspected to be carriers or...

The polymerase chain reaction (PCR) was used to amplify two polymorphic regions in the factor VIII gene. In vitro synthesis of DNA was achieved using samples obtained from buccal cells, urine, and hair follicles in addition to purified genomic and crude DNA samples prepared from whole blood. Female members of two kindreds affected with haemophilia A were assessed for carrier state using direct ...

We present a case of a 7-month-old Filipino who manifested with generalized muscle atrophy and areflexia. She had weak gag reflex and tongue fasciculations. She eventually developed feeding difficulty and recurrent pneumonia. Laboratory work-up showed a slightly elevated serum creatinine kinase (CK) and myopathic changes on electromyography and nerve conduction velocity (EMGNCV) studies. Geneti...