نتایج جستجو برای: heterozygote translocation
تعداد نتایج: 69203 فیلتر نتایج به سال:
Introduction: Bacterial translocation is defined as the passage of bacteria from intestinal tract to the extraintestinal organs such as the peritoneum and blood circulation. The aim of this study is to examine bacterial translocation (regarding type of bacteria and effect of time of obstruction on bacterial translocation) from intestinal lumen to the peritoneum and viscera in acute, simple mec...
was Ampli-Taq DNA polymer-ase. Another problem may be attributable to the production of uneven peak-height patterns, which are caused by differences in the efficiency of dideoxy termination at different bases and are affected by sequence context as well. Zakeri et al. (5) reported that a heterozygous C peak was much smaller in size than a heterozygous G peak. This is in agreement with our resul...
Background: Congenital Adrenal Hyperplasia (CAH) is an inherited hereditary autosomal recessive heredity, which is often induced by mutation in the CYP21A2 gene. The aim of this study was to determine the prevalence of cluster exon 6 mutation among patients with CAH deficient in 21-OHD enzyme in Iranian population. Materials and Methods: This is a descriptive study and Blood samples were ...
Comment on “Individual heterozygosity predicts translocation success in threatened desert tortoises”
Scott et al . (Reports, 27 November 2020, p. 1086) bring much-needed attention to species conservation by demonstrating heterozygote superiority among translocated tortoises. However, we believe that their recommended heterozygosity decision rule risks taking genomics backward. We argue advice could misguide management aimed at establishing viable populations, and it can be improved also assess...
AIMS To characterise the disease in patients with mutations in RPE65. METHODS Individuals from two families were studied clinically. RESULTS 13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted spots in the fundus. Some heterozygotes had macular drusen. A 40 year old compound heterozygot...
3H-DHT binding was examined in cultured skin fibroblasts from a patient with complete testicular feminisation (CTF), from his heterozygote mother, and his clinically normal sister, who menstruated normally. Binding parameters were: Bmax less than 1 fmol/mg protein and KD unmeasurable in CTF; Bmax = 24 fmol/mg protein and KD = 3.63 X 10(-9) mol/l in the mother; and Bmax = 46 fmol/mg protein and...
A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when coun...
background: acute lymphoblastic leukemia (all) is the most common subtype of childhood cancer. chromosomal abnormality, specially the replacement of chromosomal material is one of the main reasons in generating leukemia, wherein the kind of translocation play a key role in managing the remedy. the goal of the present study was to develop a reliable, rapid, and cost effective method to detect t...
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