Here I present: “Ovarian Dysgenesis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 卵巢发育不良。(ODG1).
INTRODUCTION.
Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (absence of menstrual periods).
There is evidence that ovarian dysgenesis type-1 (ODG1) is caused by homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor (FSHR) on cytogenetic location 2p16.3 and genomic coordinates 2:48,962,157-49,154,515. The screenshot of the FSHR gene 192,359 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FSHR in the 2p16.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:48,440,766 | PPP1R21 | Protein phosphatase 1, regulatory subunit 21 |
| 2:48,530,154 | STON1 | Stonin 1 |
| 2:48,617,856 | GTF2A1L | General transcription factor IIA, 1-like |
| 2:48,686,774 | LHCGR | Luteinizing hormone/choriogonadotropin receptor |
| 2:48,962,157 | FSHR | Follicle stimulating hormone receptor |
| 2:49,918,503 | NRXN1 | Neurexin 1 |
| 2:53,669,980 | ASB3 | Ankyrin repeat-containing SOCS box protein 3 |
| 2:53,767,783 | CHAC2 | CHAC cation transport regulator homolog 2 |
| 2:53,787,044 | ERLEC1 | Erlectin (endoplasmic reticulum lectin 1) |
| 2:53,852,912 | GPR75 | G protein-coupled receptor 75 |
