Nucleotide variation was examined in an 8 kb intronic DNA bordering exon 44 of the human dystrophin gene on Xp21. Thirty-six polymorphisms (substitutions, small insertions/deletions and one (T)n microsatellite) were found using SSCP/heteroduplex analysis of DNA samples from mixed Europeans, Papua New Guineans as well as from six African, three Asian and two Amerindian populations. In this way t...

Abstract The study investigates the relationship between information and communication-enabled supply chain integration (SCI) sustainable performance (SSCP). Moreover, to best of our knowledge, there is no empirical evidence on impact blockchain technologies (BT) SSCP. Therefore, primary aim this assess BT More specifically, was conducted examine direct influence SCI SSCP interactive effect Bas...

DOI: 10.1002/sscp.202200033 The cover picture has beef cattle and pigs in a farm environment overlaid with snapshot of three-dimensional scatter plot that contains the following inlaid pictures; pork samples been prepared for volatile extraction, gas chromatograph mass spectrometer, undertaking chromatography olfactory analysis two-dimensional chromatograph.

This study was conducted to assess the possible association between polymorphisms of transcription factor 7-like 2 (TCF7L2) gene and obese Iraqi adults. DNA obtained from 158 subjects 142 controls. Two specific PCR fragments were designed incorporate two highly frequent single nucleotide polymorphism (SNP)s within TCF7L2, rs11196208 rs7908486. Both amplified loci genotyped by PCR-single-strand ...

Single-stranded conformational polymorphism (SSCP) analysis is useful for mutation detection and polymorphism identification. To realize high-throughput SSCP analysis using a high-intensity electric field, the gel temperature must be well-controlled. We have developed an electrophoretic system having a pair of glass plates with an efficient temperature-controlling apparatus on each side of the ...

Efficient screening of unknown DNA variations is one of the substantive matters of molecular biology even today. Historically, SSCP and heteroduplex analysis (HA) are the most commonly used methods for detecting DNA variations everywhere in the world because of their simplicity. However, the sensitivity of these methods is not satisfactory for screening purpose. Recently, several new PCR-based ...

Molecular diagnostics of hereditary breast and/or ovarian cancer is mainly based on detection of BRCA1 and BRCA2 germline mutations in suspected families. The aim of the study was to determine the frequency, age and geographical distribution in 130 Slovak hereditary breast and ovarian cancer (HBOC) families diagnosed within the years 2000-2004. Mutation screening was performed by single-strand ...

PURPOSE Mutations in the glutamate receptor metabotropic 6 gene (GRM6) have been identified in patients with congenital stationary night blindness (CSNB1B). High myopia is usually observed in CSNB1B patients. This study tested if any mutations in GRM6 were solely responsible for high myopia. METHODS DNA was prepared from the venous leukocytes of 96 Chinese patients with high myopia (refractio...

PURPOSE The 208delG (c.72delG, p.Thr25GlnfsX120) mutation in the FSCN2 gene was reported to cause autosomal dominant retinitis pigmentosa (ADRP) and autosomal dominant macular degeneration (ADMD). The purpose of this study was to detect the 208delG mutation in Chinese individuals, with or without hereditary retinal degeneration. METHODS DNA fragments encompassing the 208delG mutation were amp...