Genomic coordinate 7:152,644,776
Here I present: “Fanconi Anemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FA) 範科尼貧血。icd10=Q82.1
INTRODUCTION.
Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by aplastic anemia, congenital defects, endocrinological abnormalities, and an increased incidence of developing cancer. The study of Fanconi anemia has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer.
There is evidence that Fanconi anemia of complementation group-U (FANCU) is caused by homozygous mutation in the X-ray repair cross complementing type-2 (XRCC2) gene on cytogenetic location 7q36.1 and genomic coordinates 7:152,644,776-152,676,141. The screenshot of the XRCC2 gene 31,366 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides XRCC2 in the 7q36.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:151,556,127 | PRKAG2 | Protein kinase, AMP-activated, noncatalytic, gamma-2 |
| 7:151,956,446 | GALNTL5 | Polypeptide N-acetylgalactosaminyltransferase like-5 |
| 7:152,025,674 | GALNT11 | Polypeptide N-acetylgalactosaminyltransferase like-11 |
| 7:152,134,925 | KMT2C | Lysine (K)-specific methyltransferase 2C |
| 7:152,644,776 | XRCC2 | X-ray repair cross complementing 2 |
| 7:153,748,133 | DPP6 | Dipeptidylpeptidase VI |
| 7:154,943,690 | PAXIP1 | PAX transcription activation interacting protein 1 |
| 7:155,070,324 | HTR5A | 5-hydroxytryptamine (serotonin) receptor-5A |
| 7:155,200,001 | SCZD16 | Chromosome 7q36.3 duplication syndrome, 362kb |
| 7:155,297,878 | INSIG1 | Insulin-induced gene 1 |
