Genomic coordinate 8:132,866,958
Here I present: “Dyshormonogenetic Goiter”, Victor McKusick, Mendelian Inheritance in Man’, 1966.失激素遺傳性地質。 icd10=E07.1
INTRODUCTION.
Dyshormogenetic goiter is a condition due to genetic defects in the synthesis of thyroid hormones.
Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes. Dyshormonogenesis goiter can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis goiter is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH) stimulation.
Thyroglobulin (TG) is a glycoprotein produced by the follicular cells of the thyroid and used entirely within the thyroid gland. TG is secreted and accumulated at hundreds of grams per litre in the extracellular compartment of the thyroid follicles, accounting for approximately half of the protein content of the thyroid gland.
There is evidence that dyshormonogenesis goiter is caused by mutation in the thyroglobulin (TG) gene encoded on cytogenetic location 8q24.22 and genomic coordinates 8:132,866,958-133,134,899. The screenshot of the TG gene 267,942 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TG in the 8q24.22 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:132,120,861 | KCNQ3 | Potassium voltage-gated channel, KQT 3 |
| 8:132,570,416 | DNAAF11 | Dynein, axonemal, assembly factor 11 |
| 8:132,705,839 | TMEM71 | Transmembrane protein 71 |
| 8:132,775,388 | PHF20L1 | PHD finger protein 20-like 1 |
| 8:132,866,958 | TG | Thyroglobulin |
| 8:133,036,728 | SLA | Src-like-adaptor |
| 8:133,054,959 | PTCSC1 | Papillary thyroid carcinoma 1 gene |
| 8:133,191,039 | CCN4 | Cellular communication netowrk factor 4 |
| 8:133,237,175 | NDRG1 | N-myc downstream-regulated gene 1 |
| 8:133,454,848 | ST3GAL1 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 |
