| Insert |
DNA: cDNA Insert lengths(kb): 2.099999904632568 Tissue: fetal adrenal gland Gene product: cytochrome P450, subfamily XXI (steroid 21-hydroxylase, congenital adrenal hyperplasia) [CYP21] Alleles: A2, B2, A2, B2, A1, B1, A1, B1, C2, C2, C1, C1 |
| Comments |
Restriction digests of the clone give the following sizes (kb): BamHI--3.1, 2.2; XhoI--3.0, 2.3; PstI--1.95, 1.2, 0.53, 0.47 + others; HindIII--5.2; ClaI--5.2. This encodes the complete cDNA except for about 30 bp at the 5' end. The poly(A) signal is 21 bp upstream of the poly(A) sequence (42 bp). Hybridizes with CYP21A (pseudogene) and CYP21B. Detects bands of 3.2 kb (A) and 3.7 kb (B) in TaqI digests which can be used to detect deletions and duplications. Detects bands of 10 kb (A) and 12 kb (B) in BglII digests. |
| References |
White PC, et al. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc. Natl. Acad. Sci. USA 82: 1089-1093, 1985. PubMed: 2983330
White PC, et al. Structure of human steroid 21-hydroxylase genes. Proc. Natl. Acad. Sci. USA 83: 5111-5115, 1986. PubMed: 3487786
Werkmeister JW, et al. Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am. J. Hum. Genet. 39: 461-469, 1986. PubMed: 3490178
Amor M, et al. Mutation in the CYP21B gene (Ile-172-->Asn) causes steroid 21-hydroxylase deficiency. Proc. Natl. Acad. Sci. USA 85: 1600-1604, 1988. PubMed: 3257825
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