introduction: infertility is a significant multifactorial disorder that can be caused by chromosomal abnormalities. in this study, we aimed to cytogenetically investigate male and female patients admitted to the genetic diagnostic laboratory of kayseri educational hospital in kayseri, turkey with varied clinical prediagnoses of infertility. materials and methods: chromosomes from cultured perip...

Background and Objectives: studying chromosomal changes for anemia patients of children age (3month-12years ) in the city kut diagnosing those abnormalities resulting from having Methods: The chromosomes Patients to were analyzed studied using cytogenetic analysis detect aberrations caused by after collecting blood samples Al-Karama Teaching Hospital as well clinics Kut.Results: Chromosomal all...

We recently described, in Cannabis sativa, the oldest sex chromosome system documented so far plants (12–28 Myr old). Based on estimated age, we predicted that it should be shared by its sister genus Humulus, which is known also to possess XY chromosomes. Here, used transcriptome sequencing of an F1 family H. lupulus identify and study chromosomes this species using probabilistic method SEX-DET...

turner syndrome is one of the best known chromosome anomalies in human being, by an approximate incidence of 1/2500 female at birth. the cause is a chromosomal aberration, mainly with the karyotype 45, x. ninety six patients aged 6 to 26 years with short stature were studied for chromosomal anomalies. out of these 82 were phenotypically female and 14 phenotypically male. twenty seven showed abn...

MOTIVATION Fine-mapping experiments from genome-wide association studies (GWAS) are underway for many complex diseases. These are likely to identify a number of putative causal variants, which cannot be separated further in terms of strength of genetic association due to linkage disequilibrium. The challenge will be selecting which variant to prioritize for subsequent expensive functional studi...

Meiotic recombination ensures proper chromosome segregation in many sexually reproducing organisms. Despite this crucial function, rates of recombination are highly variable within and between taxa, and the genetic basis of this variation remains poorly understood. Here, we exploit natural variation in the inbred, sequenced lines of the Drosophila melanogaster Genetic Reference Panel (DGRP) to ...

A genome-wide association study identified a common genetic variant rs3802842 at 11q23 to be associated with CRC risk with OR=1.1 and P = 5.80E-10 in European population. In Chinese population, several genetic association studies have investigated the association between rs3802842 variant and CRC risk. However these studies reported both positive and negative association results. It is still ne...

In recent years it has emerged that structural variants have a substantial impact on genomic variation. Inversion polymorphisms represent a significant class of structural variant, and despite the challenges in their detection, data on inversions in the human genome are increasing rapidly. Statistical methods for inferring parameters such as the recombination rate and the selection coefficient ...

Refractive error (RE) is a complex multifactorial disease. Genome-wide association studies (GWAS) have provided significant insight into the genetic architecture and identified plenty of robust genetic variations or single nucleotide polymorphisms (SNPs) associated with complex disease. A major current challenge is to convert those resources into causal variants and target genes. We used Regulo...