Genomic coordinate 8:142,872,357
Here I present: “Hyperaldosteronism”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 阿爾多斯特倫主義。icd10=E26.09
INTRODUCTION.
Hyperaldosteronism is a medical condition wherein too much aldosterone is produced. High aldosterone levels can lead to lowered levels of potassium in the blood (hypokalemia) and increased hydrogen ion excretion (alkalosis). Aldosterone is normally produced in the adrenal glands.
Hyperaldosteronism type-1 (also referred to as glucocorticoid-remediable aldosteronism), is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.
There is evidence hyperaldosteronism type-1 is the result of an anti-Lepore-type fusion of the CYP11B2 and CYP11B1 genes on cytogenetic location 8q24.3 and genomic coordinates 8:142,872,357-142,879,825. The screenshot of the CYP11B1 gene 7,469 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CYP11B1 in the 8q24.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:142,740,949 | SLURP1 | Secreted LY6/uPAR-related protein 1 |
| 8:142,771,197 | LYNX1 | Lynx1, mouse, homolog of |
| 8:142,784,882 | LY6D | Lymphocyte antigen 6 complex, locus D |
| 8:142,834,801 | GML | Glycosylphosphatidylinositol-anchored molecule-like protein |
| 8:142,872,357 | CYP11B1 | Cytochrome P450, subfamily XIB, polypeptide 1 |
| 8:142,910,559 | CYP11B2 | Cytochrome P450, subfamily XIB, polypeptide 2 |
| 8:143,018,529 | LY6E | Lymphocyte antigen 6 complex, locus E |
| 8:143,157,916 | LY6H | Lymphocyte antigen 6 complex, locus H |
| 8:143,213,218 | GPIHBP1 | Glycosylphosphatidylinositol-anchor lipoprotein-bind protein 1 |
| 8:143,267,445 | GLI4 | GLI-Kruppel family member GLI4 (oncogene HKR4) |
