Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12188/11547
DC Field | Value | Language |
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dc.contributor.author | Anastasovska, V | en_US |
dc.contributor.author | Kocova, M | en_US |
dc.date.accessioned | 2021-03-25T10:54:55Z | - |
dc.date.available | 2021-03-25T10:54:55Z | - |
dc.date.issued | 2010-01-01 | - |
dc.identifier.uri | http://hdl.handle.net/20.500.12188/11547 | - |
dc.description.abstract | <jats:title>Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of Macedonia</jats:title><jats:p>Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. In 90-95% of cases it results from mutations in the gene for 21-hydroxylase (CYP21, also termed CYP21A2 and P450c21). The IVS-II-656 (C/A>G) mutation leaves ~2.0% enzyme activity, and comprises 25% of the classic CYP21 deficiency alleles and 51% of alleles in the salt-wasting form.</jats:p><jats:p>We performed direct molecular diagnosis of the IVS-II mutation in 41 Macedonian patients with different clinical forms of CAH and 55 of their healthy parents and siblings from 37 unrelated families, using the differential polymerase chain reaction/amplification created restriction site method (PCR/ACRS). The IVS-II mutation was detected in 41.5% patients (29.3% were homozygotes and 12.2% were heterozygotes). All homozygotes had a severe classical CAH phenotype (of which 91.7% were salt-wasting and 8.3% were simple virilizing). Three of the heterozygotes had a salt-wasting (SW) phenotype and were compound heterozygotes. The IVS-II mutation was also found in 30.9% of the family members (18.2% were homozygous and 12.7% were heterozygous) and none had any clinical manifestation. The frequency of the IVS-II mutation (41.5%) in these subjects was similar to that reported elsewhere.</jats:p> | en_US |
dc.language.iso | en | en_US |
dc.publisher | Walter de Gruyter GmbH | en_US |
dc.relation.ispartof | Balkan Journal of Medical Genetics | en_US |
dc.title | Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of Macedonia | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.2478/v10034-010-0023-7 | - |
dc.identifier.url | https://content.sciendo.com/view/journals/bjmg/13/2/article-p27.xml | - |
dc.identifier.url | https://content.sciendo.com/downloadpdf/journals/bjmg/13/2/article-p27.xml | - |
dc.identifier.volume | 13 | - |
dc.identifier.issue | 2 | - |
dc.identifier.fpage | 27 | - |
dc.identifier.lpage | 33 | - |
item.grantfulltext | none | - |
item.fulltext | No Fulltext | - |
crisitem.author.dept | Faculty of Medicine | - |
crisitem.author.dept | Faculty of Medicine | - |
Appears in Collections: | Faculty of Medicine: Journal Articles |
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