Chromosoma 15 (homo)
Chromosoma 15 humanum est uno ex viginti tribus paribus in hominibus quibus de consuetudine horum chromosomatum duo exempla sunt. Numerus basium conexarum est 100 338 915 quod est 3.3 centesimae omnium[1]. Plures morbi genetici e mutationibus chromosomatis 15 oriuntur.
Gena
[recensere | fontem recensere]Inter alia in chromosomate humani 15 gena haec locata sunt:
| locus | coordinata | genum | proteinum | OMIM |
|---|---|---|---|---|
| 15q11.2 | 22 786 225 — 22 829 789 | NIPA1 | NIPA1 (transportator magnesii | 608146 |
| 15q11.2 | 22 838 666 — 22 868 384 | NIPA2 | NIPA2 (transportator magnesii) | 608146 |
| 15q11.2 | 22 867 052 — 22 980 898 | CYFP1 | CYFPI (proteinum cytoplasmaticum) | 606322 |
| 15q11.2 | 22 983 025 — 23 039 569 | TUBGCP5 | GCP5 (proteinum tubulorum sociatum) | 608147 |
| 15q21.2 | 51 208 057 — 51 338 596 | CYP19A1 | CYP19A1: Aromatasis | 107910 |
Morbi circum chromosoma 15 hominis
[recensere | fontem recensere]Syndromata microdeletione
[recensere | fontem recensere]Apud chromosomate 15 hominis syndromata microdeletione (deletione chromosomali < 5 decies centena milia parum basium (Mb)) descripta sunt ut:
- Syndroma Angelman (15q11.2-q13)[2]
- Syndroma Prader et Willi (15q11.2-q13)[3]
Notae
[recensere | fontem recensere]- ↑ Descriptio chromosomatis 15.
- ↑ Buiting K., Williams C., Horsthemke B. (Oct 2016). "Angelman syndrome - insights into a rare neurogenetic disorder". Nature Reviews. Neurology 12 (10): 584-93 doi:10.1038/nrneurol.2016.133
- ↑ Butler M. G., Manzardo A. M., Forster J. L. (2016). "Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches". Current pediatric review 12 (2): 136-66 doi:10.2174/1573396312666151123115250
Nexus interni
Nexus externi
[recensere | fontem recensere]- Chromosoma 15 et Human Genome Project: http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo15.shtml
Chromosomata hominis
