نتایج جستجو برای: t in exon 3 following sequencing
تعداد نتایج: 17502759 فیلتر نتایج به سال:
This study investigated the atopic march on basis of genetics. research detected 227 variants in filaggrin gene (FLG gene). Missense, silent, non-sense, frame-shift and non-coding mutations were exon 3 FLG patients with bronchial asthma, dermatitis, allergic rhinitis mixed atopy. Missense mutation was at c.8343 G > C (p. Asp2781Glu) all adult asthmatic patients. Whereas, c.8360 T/A Arg2787 His/...
Tyrosinemia is a rare autosomal recessive genetic disease caused by fumarylacetoacetate hydrolase deficiency. 40 different mutation have been recognized related to Tyrosinemia that could be found in all extend of the gene with higher frequency from exon 8 to 14. Because of the size of FAH gene it's impossible to Sequence whole length of the gene by one round of sequencing reaction. Aim of this ...
baluchi sheep is considered as the most common breed in iran, constituting about 30% of total sheep population, approximately 15 million heads. this research was designed to study the incidence of mutation in two loci of igf-i (exon 3) and adrb3 (intron) along with their association with body weight traits in baluchi sheep population. following dna extraction from 190 baluchi sheep, two pairs o...
background: cystic fibrosis (cf) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (cftr) gene. cf is also the most frequently inherited disorder in the west. the aim of this study was to detect the mutations in the cftr gene in two iranian families with cf. methods: after dna extractio...
Fig. S1. (a, b) Agarose gel analysis and (c, d) direct sequencing of mRNA amplified by nested PCRs in the proband and her mother. The mutation c.488delG in exon 5 of LAMA3 has been amplified using a forward primer located in exon 1 (bp 175) and a reverse primer located in exon 8 (bp 815). The mutation c.4484C>T in exon 33 of LAMA3 has been amplified using a forward primer located in exon 31 (bp...
this study was conducted to detect polymorphism of gene bmp15, a member of transforming growthfactor β (tgfβ) family which has a crucial role in controlling the ovarian follicles development,ovulation rate and fertility. samples were randomly selected from 91 najdi goats in 3 geographicallocations, northwest, southeast and center of khuzestan province. after dna extraction, amplification of235 ...
The enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) is rate-limiting for metabolism of cholesterol; it plays an important role in endogenous cholesterol biosynthesis. We used DNA sequencing technology and created restriction site PCR-RFLP to detect HMGCR SNPs in an F(2) resource population of Gushi chicken and Anka broilers. We found a G/T mutation (Gln/His) in exon 17 and a T/C ...
Growth differentiation factor 9 (GDF9) belong to the superfamily of transforming growth factor β that is highly expressed in growing ovarian follicles of oocyte, and it has been strongly related to fecundity traits in sheep. Therefore, the GDF9 gene could serve as a genetic marker for improvement of reproductive performance in sheep. Therefore, the aim of this study was to invest...
BACKGROUND Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes. Herein we report genetically confirmed cases of Alström syndrome and Bardet-Biedl syndrome in Korea us...
background: patients with diabetes mellitus type ii suffer from hyperglycemia because they are not able to use the insulin that they produce, often due to inadequate function of insulin receptors. there are some evidences that this deficiency is inherited in a dominant autosomal manner and leads to the malfunction of the pancreatic beta cells resulting in insulin excretion disorders. in this st...
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