Glanzmann thrombasthenia (GT) is the most common inherited disorder of platelets. Most of the molecular defects previously identified in GT have been caused by point (or other small) mutations in the genes for glycoprotein (GP) IIb or GPIIIa. We have used single-strand conformation polymorphism (SSCP) analysis to rapidly identify single-base changes in the GPIIIa gene. Using genomic DNA from no...

This study was conducted to assess the potential association between leptin (LEP) gene polymorphisms and type 2 diabetes mellitus (T2DM) in Iraqi patients. Genomic DNA extracted from 120 diabetic subjects 100 controls. Three specific PCR fragments were designed flank three highly frequent single nucleotide polymorphism (SNP)s within LEP, rs11761556, rs12706832 rs2167270. The amplified loci geno...

All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN (survival motor neurone) gene. The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. We have analysed patients from 24 Belgian and 34 Turkish families for the...

Sir, the big flooding in Thailand in 2011 is one of the problematic flooding in Asia. It causes several destroying to many things in the disaster areas. An important concern is on the effect on the setting with the radioactive elements usage. In Thailand, there are some places with radioactive elements including to the university, hospital as well as radioactive research center. Luckily, ...

Minisatellite isoallelism, i.e. the occurrence of minisatellite alleles with different internal sequence composition but indistinguishable length, is a common limitation of minisatellite allele length analysis. Internal sequence variation can be used to distinguish such isoalleles, provided that detailed sequence knowledge of its basis is available. We now show that minisatellite isoalleles can...

OBJECTIVE The aim of this study was to identify human papillomavirus (HPV) in cervical intraepithelial neoplasia (CIN) lesions and to evaluate the persistence of viral DNA after diathermic large loop excision (DLLE) treatment. STUDY DESIGN Biopsies from 36 patients with low- and high-grade CIN lesions were studied before and after DLLE treatment looking for HPV sequences. DNA was extracted to...

Accidental or intentional release of radioactive materials into the living or working environment may cause radioactive contamination. In nuclear medicine departments, radioactive contamination is usually due to radionuclides which emit high energy gamma photons and particles. These radionuclides have a broad range of energies and penetration capabilities. Rapid detection of radioactive contami...

Hemophilia B is an X-linked recessive bleeding disorder caused by heterogeneous mutations in factor IX gene. In about one-third of cases it arises by a new mutation in germ-line cells. In this study carrier testing was performed for females of a family with only one affected individual by single strand conformation polymorphism (SSCP). Results indicated that the SSCP band shift in the propositu...