Polymorphism of GH Exon 2 (c.100A>G) and GH Exon 4 (c.68A>C) in Sapera Goat
نویسندگان
چکیده
منابع مشابه
An exon splice enhancer mutation causes autosomal dominant GH deficiency.
Familial isolated GH deficiency type II (IGHD II) is caused, in some cases, by heterogeneous IVS3 mutations that affect GH mRNA splicing. We report here our finding an A-->G transition of the fifth base of exon 3 (E3+ 5 A-->G) in affected individuals from an IGHD II family. This mutation disrupts a (GAA)(n) exon splice enhancer (ESE) motif immediately following the weak IVS2 3' splice site. The...
متن کاملAssociation between the GH receptor/exon 3 genotype and the level of exon 3-positive GH-binding protein in human serum.
OBJECTIVE The human GH-binding protein (GHBP) is derived from the GH receptor (GHR) through proteolytic cleavage of its extracellular domain. Two isoforms of the GHBP exist, differing in the retention or exclusion of exon 3: E3(+)GHBP and E3(-)GHBP. Our study aimed to answer the questions whether the level of E3(+)GHBP in the serum correlates with the GHR exon 3 expression and whether or not th...
متن کاملInfluence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency.
CONTEXT A polymorphism of the GH receptor (GHR) gene resulting in genomic deletion of exon 3 (GHR-d3) has been associated with responsiveness to GH therapy. However, the data reported so far do vary according to the underlying condition, replacement dose, and duration of the treatment. OBJECTIVE, DESIGN: The aim of this study was to analyze the impact of the GHR genotypes in terms of the initia...
متن کاملB 1 2 3 4 5 6 4 5 6 , Exon 4 - Exon 6 - Exon 7 . 8 . 9 - Exon 2 - Exon
We report the identification of a female patient with the Xlinked recessive Lesch-Nyhan syndrome (hypoxanthine phosphoribosyltransferase [HPRTI deficiency). Cytogenetic and carrier studies revealed structurally normal chromosomes for this patient and her parents and demonstrated that this mutation arose through a de novo gametic event. Comparison of this patient's DNA with the DNA of her parent...
متن کاملthe polymorphism of exon 2 of gola-drb3 gene in nadushan goat using pcr-rflp
this study was conducted to determine polymorphism of gola-drb3 in nadushan goat using pcr-rflp. blood samples were randomly taken from 100 goats. dna was extracted from the blood samples using diatom dna prep kit. spectrophotometer and 1% agarose gel were used for determining its quantities and qualities. exon 2 of drb 3.2 gene encompassing 285 bp was amplified with heminested-pcr method in tw...
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ژورنال
عنوان ژورنال: IOP Conference Series: Earth and Environmental Science
سال: 2021
ISSN: 1755-1307,1755-1315
DOI: 10.1088/1755-1315/788/1/012002