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Sajjad Mansouri Ali Ashraf Mehrabi Danial Kahrizi 《Journal of Crop Science and Biotechnology》2013,16(3):197-200
A collection of sixty-three accessions of Ae. tauschii belonging to different eco-geographical regions were used to evaluate its genetic diversity by 15 morphological characters. The data recorded were analyzed on all accessions using multivariate analyses. Principal component analysis (PCA) indicated that first six principal components with eigenvalues more than 1 explained 77.2% of the variability amongst accessions. Through cluster analysis according to Euclidian distance and UPGMA method, accessions divided into three groups. Knowledge of genetic diversity in Aegilops species provides different levels of information which is important in the management of germplasm resources. 相似文献
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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
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Rahimi Ataollah Mirmoayedi Alinaghi Kahrizi Danial Zarei Leila Jamali Samad 《植物病害和植物保护杂志》2022,129(6):1331-1342
Journal of Plant Diseases and Protection - The honey bee (Apis mellifera), as one of the most important pollinating insects, plays a critical role in biodiversity conservation and global food... 相似文献
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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, 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
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