Khajuria Ragini, Walia Rama, Bhansali Anil, Prasad Rajendra
Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Data Brief. 2016 Dec 15;10:406-412. doi: 10.1016/j.dib.2016.12.013. eCollection 2017 Feb.
This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in "The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort" (R. Khajuria, R. Walia, A. Bhansali, R. Prasad, 2017) [1]. This dataset features about the CAH patients in the cohort, their classification into subtypes and finally screening the exon-intron boundaries of 21-Hydroxylase gene (CYP21A2) to detect common mutations, novel mutations along polymorphisms in the CYP21A2 gene. The specified large set of primers and the parameters for the mutation detection allow the identification and molecular characterization of CYP21A2 gene in the CAH patients.
本文展示了关于21-羟化酶缺陷型先天性肾上腺皮质增生症（CAH）患者突变谱的数据集，如《印度队列中先天性肾上腺皮质增生症患者CYP21A2基因突变谱》（R. Khajuria、R. Walia、A. Bhansali、R. Prasad，2017年）[1]所述。该数据集包含了该队列中CAH患者的相关信息，将他们分类为不同亚型，最后筛查21-羟化酶基因（CYP21A2）的外显子-内含子边界，以检测CYP21A2基因中的常见突变、新突变以及多态性。特定的大量引物和突变检测参数有助于识别CAH患者中CYP21A2基因并对其进行分子特征分析。
