نتایج جستجو برای: x linked diseases
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x-linked agammaglobulinemia (xla) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced b lymphocytes number. in order to determine the association of neutropenia among iranian patients with xla, hospital records of 30 patients with confirmed xla in children medical center hospital, were reviewed. eight ou...
The human X chromosome is the favorite chromosome of many geneticists because of its peculiar inheritance pattern and unique biology. The peculiar inheritance pattern stems from its hemizygosity in males and gives rise to a disproportionately high number of Mendelian diseases associated with a human chromosome. As high as 70% of the genes with a known function on the X are associated with disea...
Wiscott-Aldrich syndrome (WAS) is an x-linked immune-deficiency disorder associated with eczema, recurrent infections, and increased frequency of autoimmune diseases, malignancy and thrombocytopenia with small size platelet. Our case is an 11 year old from a non- related parent, who was admitted with abdominal pain (hematoma), lower extremities bleeding (ecchymosed) and vomiting. Also, he had...
background: objective: in this study we performed linkage analysis on a large x linked rsa pedigree to find a novel susceptibility locus for rsa. materials and methods: a linkage scan using 11 microsatellites was performed in 27 members of a large pedigree of hereditary x-linked rsa. two point parametric linkage was performed using superlink v 1.6 program. results: evidence of linkage was o...
Many new disease genes can be identified through high-throughput sequencing. Yet, variant interpretation for the large amounts of genomic data remains a challenge given variation of uncertain significance and genes that lack disease annotation. As clinically significant disease genes may be subject to negative selection, we developed a prediction method that measures paucity of non-synonymous v...
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