Genotyping steroid 21-hydroxylase deficiency hormonal reference data

CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP17A1 include Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency and Pseudohermaphroditism . Among its related pathways are superpathway of steroid hormone biosynthesis and Aldosterone synthesis and secretion . Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen . An important paralog of this gene is CYP21A2 .

PstI preferentially cleaves purified pSM1 DNA without being influenced by the superhelicity of the substrate. [11] However, it is not known whether the effects of this cleavage occurs upon binding to the recognition site or DNA scission. Its differential cleavage rates at different restriction sites is due to the five features of duplex structure. The proximity to the ends in linear DNA molecule, variation in DNA sequence within the recognition sites for enzymes, short distance between regions of unusual DNA sequences and recognition sites, and lastly the special structures such as loops and hairpins. The collective effect of these five factors could affect the accessibility of the restriction enzyme to its recognition sites.

Can et al. (1998) studied the molecular genetics of a large isolated inbred Turkish kindred with male pseudohermaphroditism (PPSH; 264600 ) due to either 5-alpha-reductase-2 (SRD5A2) or 17-beta hydroxysteroid dehydrogenase-3 (HSD17B3; 605573 ) gene defects. Using SSCP analysis and DNA sequencing, a new mutation in exon 5 of the SRD5A2 gene was detected in some male pseudohermaphrodites from this kindred. This single base (adenine) deletion caused a frameshift at amino acid position 251, resulting in the addition of 23 amino acids at the C terminus of this 254-amino acid isozyme. Expression of the mutant isozyme in CV1 cells showed a complete loss of enzymatic activity in the conversion of [14C]testosterone to dihydrotestosterone, without a change in the mRNA level compared to that of the wildtype isozyme. Analysis of the HSD17B3 gene in other male pseudohermaphrodites from this kindred revealed a G-to-A transition at the boundary between intron 8 and exon 9, disrupting the splice acceptor site of exon 9 ( ). In addition to finding male pseudohermaphrodites with either a homozygous SRD5A2 or HSD17B3 gene defect in this kindred, other affected males were found to be genetically more complex, ., homozygous for the SRD5A2 defect and heterozygous for the HSD17B3 defect, or homozygous for the HSD17B3 defect and heterozygous for the SRD5A2 defect. Also, phenotypically normal carriers were identified with either one or both gene defects. Homozygous male pseudohermaphrodites with SRD5A2 or HSD17B3 gene defects were phenotypically distinguishable by the presence of mild gynecomastia in the latter. Hormone data were consistent with the particular homozygous gene defect. The authors concluded that 2 gene defects, one in SRD5A2 and the other in HSD17B3, can each cause male pseudohermaphroditism in a large isolated Turkish kindred, and that the 2 defects segregate independently and can be inherited from 2 different progenitors. They stated that the analysis of a new mutation in exon 5 of the SRD5A2 gene supported the functional importance of the C terminus of the SRD5A2 isozyme.

Androstenedione is an androgen , one of several "male" sex hormones that are responsible for the onset of sexual differentiation in males and females and the development of secondary male physical characteristics such as a deep voice and facial hair. Though it is considered to be a "male" sex hormone, it is present in the blood of both men and women and is a precursor that can be converted by the body into more potent androgens, such as testosterone , or converted into the female hormone estrogen . This test measures the amount of androstenedione in the blood.

Genotyping steroid 21-hydroxylase deficiency hormonal reference data

genotyping steroid 21-hydroxylase deficiency hormonal reference data

Androstenedione is an androgen , one of several "male" sex hormones that are responsible for the onset of sexual differentiation in males and females and the development of secondary male physical characteristics such as a deep voice and facial hair. Though it is considered to be a "male" sex hormone, it is present in the blood of both men and women and is a precursor that can be converted by the body into more potent androgens, such as testosterone , or converted into the female hormone estrogen . This test measures the amount of androstenedione in the blood.

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