The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia     

Ramazani A  Kahrizi K  Razaghiazar M  Mahdieh N  Koppens P 《Iranian Biomedical Journal》2008,12(1):49-53

BACKGROUND: Congenital Adrenal Hyperplasia (CAH, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. More than 95% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD). Females with severe, classic 21-OHD are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot synthesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal salt wasting crisis if not treated. METHODS: We applied allele specific PCR to detect the eight common mutations in the CYP21 gene in patients. Fifty unrelated patients with symptoms of classical CAH were studied. RESULTS AND CONCLUSION: Seventy percent of our subjects had these mutations. The most frequent mutations were found to be I2G and del-8 bp (28% and 13%, respectively). The frequencies of other alleles were as following: I172N, 9%; V281L, 3%; exon 6 cluster (I236N, V237E and M239K), 4%; Q318X, 9%; R356W, 5%; and P30L, 0%. The frequency of mutations did not differ substantially from other ethnics, however, a higher rate of del-8 bp (13%) was found in our population. The aim of this study was to detect common mutations for setting up a molecular method for prenatal diagnosis.  相似文献   

The effects of partial replacement of fishmeal protein by hydrolysed feather meal protein in the diet with high inclusion of plant protein on growth performance,fillet quality and physiological parameters of Pengze crucian carp (Carassius auratus var. Pengze)     

Ruihe Yu  Hongzhong Cao  Yaying Huang  Mo Peng  Kimia Kajbaf  Vikas Kumar  Zhiying Tao  Gang Yang  Chungen Wen 《Aquaculture Research》2020,51(2):636-647

Goal of this research is to explore the effects of graded dietary levels of hydrolysed feather meal (HFM) protein as an alternative of fishmeal protein on Pengze crucian carp (Carassius auratus var. Pengze). Five isonitrogenous (35% crude protein) diets were formulated as Control diet and four other diets F15, F30, F45 and F60 wherein 15%, 30%, 45% and 60% fishmeal protein replaced by HFM protein fed for 70 days. The results showed that fish growth was unaffected up to 45% fishmeal protein replacement. Dietary HFM protein could reduce the crude protein composition of body and further affect fillet quality through a significant increase in springiness, gumminess, chewiness and/or resilience. Activity of digestive enzymes (amylase, lipase and tryptase) increased as the fishmeal protein replacement increased, whereas a higher replacement level had negative impacts on absorptive capacity of intestine by decreasing its absorptive area, following by a reduction in concentration of lactate dehydrogenase, total cholesterol, high‐density lipoprotein, low‐density lipoprotein and ammonia in serum. Although intestinal antioxidant parameters were elevated by dietary HFM protein , the content of malondialdehyde in intestine was also positively associated with the protein replacement level. Overall, our results indicate that up to 45% of fishmeal protein could be replaced by HFM protein in diet without significant impact on the growth of Pengze crucian carp, whereas the crude protein content of whole body, fillet quality and oxidative status would significantly be affected when the replacement level of fishmeal protein reaches 30% together with a negative effect on the intestinal histology.  相似文献   

Dietary supplementation of Bacillus cereus as probiotics in Pengze crucian carp (Carassius auratus var. Pengze): Effects on growth performance,fillet quality,serum biochemical parameters and intestinal histology     

Gang Yang  Hongzhong Cao  Wenhao Jiang  Baoqing Hu  Shaoqing Jian  Chungen Wen  Kimia Kajbaf  Vikas Kumar  Zhiying Tao  Mo Peng 《Aquaculture Research》2019,50(8):2207-2217

This study was aimed to evaluate the effects of dietary supplementation of Bacillus cereus as probiotics on growth, fillet quality, serum biochemical parameters and intestinal histology of Pengze crucian carp (Carassius auratus var. Pengze). Fish were fed basic diet (Control group) and three diets such as CD7, CD9 and CD11 supplemented with B. cereus at dose of 10⁷, 10⁹ and 10¹¹ CFU/kg for 70 days. The results showed that supplementation of 10⁹ CFU/kg B. cereus significantly improved the growth performance compared to that in the Control group. The textures of muscle were improved by dietary supplementation of probiotics, and the hardness, gumminess, chewiness and the resilience of fish fillet increased with increasing dose of B. cereus. Total cholesterol including high‐density lipoprotein and low‐density lipoprotein level in serum decreased correspondingly with increasing level of probiotics whereas, acid phosphatase and catalase activities increased in serum. B. cereus supplementation enhanced the immunity and antioxidant capacity via an increase in acid phosphatase, alkaline phosphatase, glutathione peroxidase, reduce glutathione, and catalase, accompanied by a significant reduction in malondialdehyde. Higher intestinal fold height was observed in CD9 group than other groups. The lowest enterocyte height was exhibited in the Control group, HE values increased with increasing dose of probiotics. Moreover, dietary inclusion of B. cereus significantly affected the digestive enzymes activities in terms of higher lipase and trypase activities. In conclusion, dietary supplementation of B. cereus could promote the growth, elevate the immunity and antioxidant status of carp, and importantly improve the texture of fish fillet.  相似文献   

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis     

Zahra Rashvand  Kimia Kahrizi  Hossein Najmabadi  Reza Najafipour  Mir Davood Omrani 《Iranian Biomedical Journal》2021,25(2):132

Background:CTX is a rare congenital lipid-storage disorder, leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Chronic diarrhea, tendon xanthomas, neurologic impairment, and bilateral cataracts are common symptoms of the disease. Methods:Three affected siblings with an initial diagnosis of non-syndromic intellectual disability were recruited for further molecular investigations. To identify the possible genetic cause(s), WES was performed on the proband. Sanger sequencing was applied to confirm the final variant. The clinical and molecular genetic features of the three siblings from the new CTX family and other patients with the same mutations, as previously reported, were analyzed. The CYP27A1 gene was also studied for the number of pathogenic variants and their location. Results:We found a homozygous splicing mutation, {"type":"entrez-nucleotide","attrs":{"text":"NM_000784","term_id":"1519312912"}}NM_000784: exon6: c.1184+1G>A, in CYP27A1 gene, which was confirmed by Sanger sequencing. Among the detected pathogenic variants, the splice site mutation had the highest prevalence, and the mutations were mostly found in exon 4. Conclusion:This study is the first to report the c.1184+1G>A mutation in Iran. Our findings highlight the other feature of the disease, which is the lack of relationship between phenotype and genotype. Due to nonspecific symptoms and delay in diagnosis, CYP27A1 genetic analysis should be the definitive method for CTX diagnosis. Key Words: Cerebrotendinous xanthomatosis, CYP27A1, Intellectual disability, Iran, Whole exome sequencing  相似文献