Journal of Endocrinology and Metabolism, ISSN 1923-2861 print, 1923-287X online, Open Access |
Article copyright, the authors; Journal compilation copyright, J Endocrinol Metab and Elmer Press Inc |
Journal website http://www.jofem.org |
Original Article
Volume 1, Number 4, October 2011, pages 174-181
Compound Heterozygous Mutations in Vitamin D Receptor Gene in Two Sisters With Hereditary Vitamin D Resistant Rickets Type II
Figures
Tables
Patient 1 | Patient 2 | Reference value | |||||
---|---|---|---|---|---|---|---|
Jan/08 | Feb/09 | Jul/11 | Jan/08 | Feb/09 | Jul/11 | ||
*urinary phosphate. | |||||||
Ca (mg/dl) | 9.7 | 9.7 | 9.5 | 9.4 | 8.9 | 10.4 | 8.8 - 10.8 |
P (mg/dl) | 2.9 | 2.8 | 2.9 | 2.1 | 3.9 | 5.6 | 3.7 - 5.6 |
ALP (U/L) | 1035 | 960 | 422 | 1573 | 767 | 392 | 145 - 420 |
PTH (pg/ml) | 118 | 162 | 60 | 620 | 315 | 38.4 | 12 - 95 |
U. PO4 (g/24h/l)* | - | 0.4 | - | - | 0.2 | - | 0.4 - 1.3 |
1,25(OH)2D3 (pg/ml) | 74 | 106 | 97 | 71 | 75 | 146 | 27 - 71 |
25(OH)D (ng/ml) | - | 14 | 18 | - | 7 | 14 | 20 - 200 |
Primers | PCR conditions | |
---|---|---|
Exon 2 | 2 a sense, 5'-AGCTGGCCCTGGCACTGACTCTGCTCT-3' 2 b antisense, 5'- ATGGAAACACCTTGCTTCTTCTCCCTC-3' | 1) Denaturation at 94 °C for 5 min. 2) 35 cycles of denaturation at 94 °C for 1 min., annealing at 60 °C for 1 min., and extension at 72 °C for 1 min. |
Exon 3 | 3a sense, 5'- AGGGTGAAGGAGCCGGAAGTTCAGTGAC-3' 3b antisense, 5'-CTTTCCCTGACTCCACTTCA GGCCCAA-3' | 3) final extension at 72 °C for 10 min. |
Exons 7& 8 | 7a sense 5'-GCGAATTCCGTTACTGGTAACCTGACCTCTTC-3' 8b antisense 5'-TGGAATTCATACACCCCGCTCCCCAGTCCCTGAG-3' | As above but with annealing at 56 °C. |