Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization

2009 ◽  
Vol 13 (6) ◽  
pp. 397-405 ◽  
Author(s):  
Yongtaek Oh ◽  
Sung Won Park ◽  
Sung-Min Chun ◽  
Namkyoo Lim ◽  
Ki Sup Ahn ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Primer Extension ◽  
Adrenal Hyperplasia ◽  
Specific Primer ◽  
Allele Specific ◽  
Array Hybridization

Microarrays for high-throughput genotyping of MICA alleles using allele-specific primer extension

2013 ◽  
Vol 82 (4) ◽  
pp. 259-268 ◽  
Author(s):  
I. C. Baek ◽  
J.-P. Jang ◽  
H.-B. Choi ◽  
E.-J. Choi ◽  
W.-Y. Ko ◽  
...  
Keyword(s):  
High Throughput ◽  
Primer Extension ◽  
Specific Primer ◽  
Allele Specific

scholarly journals Detection of First-Line Anti-Tuberculosis Drug Resistance Mutations by Allele-Specific Primer Extension on a Microsphere-Based Platform

2017 ◽  
Vol 37 (3) ◽  
pp. 296-296
Author(s):  
Seung Heon Lee ◽  
Hee Baeg Choi ◽  
Sung Yul Yu ◽  
Uck Jin Chang ◽  
Chang Ki Kim ◽  
...  
Keyword(s):  
Drug Resistance ◽  
Primer Extension ◽  
Resistance Mutations ◽  
Specific Primer ◽  
First Line ◽  
Drug Resistance Mutations ◽  
Allele Specific

scholarly journals High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil

2009 ◽  
Vol 53 (1) ◽  
pp. 40-46 ◽  
Author(s):  
Viviane C. Campos ◽  
Rossana M. C. Pereira ◽  
Natália Torres ◽  
Margaret de Castro ◽  
Manuel H. Aguiar-Oliveira
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
High Frequency ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Specific Pcr ◽  
Frequent Mutations ◽  
Allele Specific ◽  
Activity Screening ◽  
21 Hydroxylase Deficiency ◽  
Allele Specific Pcr

OBJETIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the classical forms and in 5 patients with the nonclassical (NC) form of CAH-21OH and correlate genotype with phenotype. METHODS: Genotypes were classified into 3 mutation groups (A, B and C), based on the degree of enzymatic activity. Screening for 7 microconversions by allele-specific PCR diagnosed 74.3% (n=26) of the 35 unrelated alleles. RESULTS: The most frequent mutations were Q318X (25.7%), V281L (17.1%), I2 Splice (14.3%), I172N (14.3%), and R356W (14.3%). Genotype was identified in 57.1% of the patients. We observed correlation between genotype and phenotype in 91.7% of the cases. CONCLUSION: The highest frequency for Q318X (25.7%) when compared to other studies may reflect individual sample variations in this Northeastern population.

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