排序方式: 共有20条查询结果,搜索用时 15 毫秒
1.
2.
3.
4.
Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity
下载免费PDF全文
![点击此处可从《Annals of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Nizar Ben Halim Majdi Nagara Béatrice Regnault Sana Hsouna Khaled Lasram Rym Kefi Hela Azaiez Laroussi Khemira Rachid Saidane Slim Ben Ammar Ghazi Besbes Dominique Weil Christine Petit Sonia Abdelhak Lilia Romdhane 《Annals of human genetics》2015,79(6):402-417
Runs of homozygosity (ROHs) are extended genomic regions of homozygous genotypes that record populations’ mating patterns in the past. We performed microarray genotyping on 15 individuals from a small isolated Tunisian community. We estimated the individual and population genome‐wide level of homozygosity from data on ROH above 0.5 Mb in length. We found a high average number of ROH per individual (48.2). The smallest ROH category (0.5–1.49 Mb) represents 0.93% of the whole genome, while medium‐size (1.5‐4.99 Mb) and long‐size ROH (≥5 Mb) cover 1.18% and 0.95%, respectively. We found that genealogical individual inbreeding coefficients (Fped) based on three‐ to four‐generation pedigrees are not reliable indicators of the current proportion of genome‐wide homozygosity inferred from ROH (FROH) either for 0.5 or 1.5 Mb ROH length thresholds, while identity‐by‐descent sharing is a function of shared coancestry. This study emphasizes the effect of reproductive isolation and a prolonged practice of consanguinity that limits the genetic heterogeneity. It also provides evidence of both recent and ancient parental relatedness contribution to the current level of genome‐wide homozygosity in the studied population. These findings may be useful for evaluation of long‐term effects of inbreeding on human health and for future applications of ROHs in identifying recessive susceptibility genes. 相似文献
5.
Marwa Sayeb PhD Zied Riahi PhD Nadia Laroussi PhD Crystel Bonnet PhD Lilia Romdhane PhD Rahma Mkaouar PhD Anissa Zaouak MD Jihene Marrakchi MD Ghaith Abdessalem PhD Olfa Messaoud PhD Oussema Bouchniba MS Nacer Ghilane MS Mourad Mokni MD Ghazi Besbes MD Houda Yacoub-Youssef PhD Christine Petit MD PhD Sonia Abdelhak PhD 《International journal of dermatology》2019,58(12):1439-1443
6.
7.
Laroussi N Mosnier JF Morel Y Deugnier Y Dumas O Audigier JC 《Gastroentérologie clinique et biologique》2002,26(5):475-479
BACKGROUND: The aim of this study was to evaluate the morphological, clinical and biochemical characteristics of non alcoholic steatohepatitis to understand its pathogenesis.PATIENTS AND METHODS: From January 1993 to June 2000, 44 patients were selected on histological criteria. Alcohol intake, blood pressure, weight, glycaemia, lipid, immune, iron profiles hemochromatosis (HFE) gene mutations were analyzed. Patients were re-examined thereafter or in June 2000.RESULTS: Twenty one women and 10 men were included (mean age=54). Nineteen patients were asymptomatic (61.3%). Patients often presented with an increase in alanine aminotransferase. This was correlated with steatosis (P=0.008). Hypertension, excess weight, abnormal serum glucose levels and dyslipidaemia were respectively observed in 10 (32.2%), 24 (77.4%), 16 (51.6%) and 18 (58.1%) patients. Thirteen of these patients (41.9%) presented abnormal autoantibodies titers without autoimmune hepatitis; 18 (58.1%) presented an iron overload. A mutation of the HFE gene was detected in 14 of 25 patients (51.6%). Liver iron concentrations were not correlated to the extent of fibrosis extension or with mutations.CONCLUSION: Increased alanine aminotransferase levels usually revealed non alcoholic steatohepatitis. A high prevalence of autoantibodies, iron overload and mutation of the HFE gene were detected. Non alcoholic steatohepatitis should be diagnosed because it can be associated with cirrhosis. 相似文献
8.
9.
L. Abid I. Trabelsi Y. Maazoun S. Krichène L. Laroussi R. Hammami D. Abid M. Sahnoun S. Mallek F. Triki M. Hentati S. Kammoun 《Annales de cardiologie et d'angeiologie》2011,(3):141-147
Supraventricular tachycardia in infants are variable. We try to summarize clinical, electrical and treatment particularities of supraventricular arrhythmia in infants. The majority of infants with supraventricular arrhythmia have a good clinical outcome and an excellent prognosis and may not require chronic antiarrhythmic therapy if they had precocious treatment. 相似文献
10.
Clinical and molecular investigation of Buschke‐Fischer‐Brauer in consanguineous Tunisian families
下载免费PDF全文
![点击此处可从《Journal of the European Academy of Dermatology and Venereology》网站下载免费的PDF全文](/ch/ext_images/free.gif)