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“Ovarian Dysgenesis”, Victor McKusick, Mendelian Inheritance in Man, 1966. 卵巢发育不良。(ODG1).

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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

 

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