Natural genetic material may shed light on gene expression mechanisms and aid in the detection of disorders. Single Nucleotide Polymorphism (SNP), small insertions deletions (indels), major chromosomal anomalies are all abnormality-related As a result, several methods have been applied to analyze DNA sequences, which constitutes one most critical aspects biological research. Thus, numerous math...

Non-invasive prenatal test (NIPT) has become a popular screening worldwide for common trisomies. In addition, the can also sex chromosomal aneuploidies (SCAs) with similar sensitivity. recent years, scope of NIPT extended to screen pregnancies clinically significant microdeletions (MDs), rare autosomal aneuploidies, and subchromosomal abnormalities. The clinical utility beyond trisomies 21,18,1...

To identify the chromosomal aberrations associated with the progression of liver cancer, we applied expression imbalance map analysis to gene expression data from 31 hepatocellular carcinomas and 19 noncancerous tissues. Expression imbalance map analysis, which detects mRNA expression imbalance correlated with chromosomal regions, showed that expression gains of 1q21-23 (74%), 8q13-21 (48%), 12...

This study evaluated the sensitivities and false positive rates of the screening test using ultrasonographic measurement of thickness of nuchal translucency (NT) with different cut-offs for chromosomal aberration in a Korean population. We included 2,570 singleton pregnancies undergoing ultrasound between 11 weeks and 14 weeks of gestation in this study. We analyzed the sensitivities of NT alon...

objective: chromosomal aberrations are common causes of multiple anomaly syndromes. recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques. materials and methods: in this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 i...

Streptococcus pneumoniae is a human pathogen that is naturally transformable. In this study a major component of the homologous recombination pathway, the RexAB exonuclease/helicase, was characterized. rexA and rexB insertional mutants were constructed using mariner mutagenesis and found to have identical phenotypes. Both rexAB mutants displayed poor cell viability, reduced double-strand exonuc...

The traditional methods for detection of chromosomal aberrations, which included cytogenetic or gene candidate solutions, suffered from low sensitivity or the need for previous knowledge of the target regions of the genome. With the advent of single nucleotide polymorphism (SNP) arrays, genome screening at global level in order to find chromosomal aberrations like copy number variants, DNA ampl...

background chromosomal abnormality plays an important role in different types of miscarriages. objectives the present study was designed to investigation chromosomal anomalies in three groups of couples with recurrent abortion (ra), spontaneous abortion (sa) and still birth (sb). patients and methods in this retrospective study, the frequency of chromosomal aberrations was investigated among 26...

Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies. Methods: A cross-sectional study was performed in a tertiary referral center (Afzalipour Hospital) over 16 months period (2011-2012). The study groups consisted of 77 fe...