Here I present: “Rh-Deficiency Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Rh缺乏綜合症。icd10=Z67.41
INTRODUCTION.
Rh-Deficiency syndrome is a type of hemolytic anemia that involves erythrocytes (RBCs) whose membranes are deficient in Rh-antigens.
The RH-null phenotype designates individuals whose red blood cells lack all Rh antigens. RH-null types, the regulator type (RHNR) and the amorph type (RHNA), arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene, which encodes the Rh50 glycoprotein that is crucial for the surface disposition of Rh antigens. The amorph type arises from mutations at the RH locus itself that silence Rh expression.
There is evidence that the regulator type of RH-null phenotype (RHNR) is caused by homozygous or compound heterozygous mutation in the RHAG gene on cytogenetic location 6p12.3 and genomic coordinates 6:49,605,175-49,636,839. The screenshot of the RHAG gene 31,665 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides RHAG in the 6p12.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:47,856,673 | PTCHD4 | Patched domain-containing protein 4 |
| 6:49,430,360 | MMUT | Methylmalonyl-CoA mutase |
| 6:49,463,370 | CENPQ | Centromeric protein Q |
| 6:49,499,923 | GLYATL3 | Glycine N-acyltransferase-like 3 |
| 6:49,605,175 | RHAG | Rhesus blood group-associated glycoprotein |
| 6:49,676,652 | CRISP2 | Cysteine-rich secretory protein 2 |
| 6:49,727,376 | CRISP3 | Cysteine-rich secretory protein 3 |
| 6:49,785,660 | PGK2 | Phosphoglycerate kinase-2 |
| 6:49,834,257 | CRISP1 | Cysteine-rich secretory protein 1 |
| 6:49,960,249 | DEFB114 | Defensin, beta, 114 |
