Research Article
Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population
Table 4
Frequencies of the haplotypes with p.Gln6
mutation in 12 cases and 1468 controls.
| | SNP | Mutation | Location | Chr. position | Nucleotide change | Haplotype 1 | Haplotype 2 | Haplotype 3 |
| | Rs12470143 | | Intron 1 | 31763558 | C>T | C | T | C | | Rs12470196 | | Intron 1 | 31763752 | C>T | C | T | C | | Rs57971483 | | Intron 1 | 31765510 | C>T | T | C | T | | Rs4952220 | | Intron 1 | 31765556 | A>C | C | A | C | | Rs2300697 | | Intron 1 | 31786637 | C>T | C | T | T | | Rs2300698 | | Intron 1 | 31786793 | A>G | A | G | G | | Rs2300699 | | Intron 1 | 31786967 | G>T | G | T | T | | Rs2300700 | | Intron 1 | 31786992 | A>G | G | A | G | | Rs2300701 | | Intron 1 | 31787008 | A>G | A | G | G | | Rs522638 | | Intron 1 | 31805675 | A>G | A | G | G | | Rs523349 | | Exon 1 | 31805706 | C>G | G | C | C | | Rs632148 | | 5-UTR | 31806031 | C>G | C | G | G | | Control (allele) | | | | | 1494 | 250 | 936 | | p.Gln6 | Exon 1 | 31805954 | C>T | T | C | C | T | | Case (allele) | | | | | 5 | 5 | 1 | 1 |
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