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“Primary Pulmonary Hypertension”, Victor McKusick, Mendelian Inheritance in Man, 1966. 原发性肺动脉高压。

Here I present: Primary pulmonary Hypertension”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 原发性肺动脉高压.

INTRODUCTION.

Primary pulmonary hypertension type-1 (PPH1) is a condition of increased blood pressure in the arteries of the lungs. Symptoms include shortness of breath, fainting, tiredness, chest pain, swelling of the legs, and a fast heartbeat.

Bone morphogenetic protein (BMP) is a family of proteins that induce bone formation at extracellular sites in vivo. BMP act on osteoblasts and chondrocytes as well as other cell types, including neurocells, and they play important roles in embryonal development. 

There is evidence that primary pulmonary hypertension type-1 (PPH1) is caused by heterozygous mutation in the bone morphogenetic protein receptor type-2 (BMPR2) gene on chromosome 2q33 and genomic coordinates 2:202,376,327-202,567,749 . The screenshot of the BMPR2 gene 191,423 bp  (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides BMPR2 in the 2q33 cytogenetic location are listed BENEATH. 

Coordinate  Symbol  Genomic Name.
2:201806429  CDK15 Cyclin-dependent kinase 15
2:202033855  FZD7 Frizzled class receptor 7
2:202206171  SUMO1 Small ubiquitin-like modifier 1
2:202265763  NOP58 NOP58 ribonucleoprotein
2:202376327  BMPR2 Bone morphogenetic receptor, type II
2:202874261  WDR12 WD repeat-containing protein 12
2:202912275  ALS2CR8 Amyotroph lateral sclerosis 2 chrom-region 8 
2:203014608  NBEAL1 Neurobeachin-like 1
2:203328394  ABI2 ABL interactor 2
2:203433682  RAPH1 RAS association and pleckstrin homology 1

 

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