Gomosistein darajasining oshishiga moyillik (folat sikli fermentlari genlari)
Kod:18070
| Kabi | MTHFR C677T (Ala222Val) MTHFR A1298C (Glu429Ala) MTRR A66G (Ile22Met) MTR A2756G (Asp919Gly) |
|---|
Tahlil ma'lumotlari
Tadqiqot usuli
- PCR asosida genotiplash
Kutilayotgan natija topshirish vaqti
3 kun
Maxsus tayyorlik
- No special patient preparation is necessary.
Qanday foydalanish
Gomosistein darajasining oshishiga moyillik (folat sikli fermentlari genlari) paneli, shuningdek folat yo‘li polimorfizmlarini tekshirish yoki MTHFR/MTRR/MTR genotiplash deb ham ataladi, giperhomosisteinemiyaga irsiy moyillikni baholash uchun qo‘llanadi. MTHFR, MTRR va MTR dagi keng tarqalgan variantlarni aniqlash giperhomosisteinemiyaning irsiy va orttirilgan shakllarini farqlashni qo‘llab-quvvatlaydi, kardiovaskulyar xavfni qatlamlash haqida ma’lumot beradi va reproduktiv xavf bo‘yicha muhokamalarni shakllantiradi, jumladan nerv naychasi nuqsonlari va boshqa noxush homiladorlik oqibatlarini. Natijalar metotreksat kabi antifolat terapiyalarga nisbatan toqatsizlik yoki toksiklikni oldindan taxmin qilishga ham yordam berishi mumkin.
Cheklovlar
Yuqori gomosistein endotelial disfunktsiya va aterotrombotik jarayonlar bilan bog‘langan. Folat sikli fermentlari faolligining pasayishi gomosisteinning metioninga qayta metillanishini izdan chiqaradi, bu esa, ayniqsa folat yoki vitamin B12 holati past bo‘lganda, aylanayotgan gomosistein darajasining oshishiga olib kelishi mumkin. Ko‘p baholanadigan polimorfizmlar qatoriga MTHFR C677T va A1298C, shuningdek MTRR A66G va MTR A2756G kiradi; ular mos ravishda metionin-sintaza reduktaza va metionin-sintazaga ta’sir qiladi. Klinik ifodalanish ovqatlanish holati va hamroh buzilishlar bilan belgilanadi; bildirilib kelgan assotsiatsiyalar qatoriga kardiovaskulyar kasallik, venoz tromboz, noxush homiladorlik oqibatlari va nerv naychasi nuqsonlari kiradi.
| Referens oraliq | — |
|---|---|
| Ko'rsatmalar | Assessment of an increased homocysteine level, Distinguishing genetic from non-genetic causes of hyperhomocysteinemia, Personal or familial history of thrombotic events or ischemic coronary disease, Recurrent episodes of venous thromboembolism, Thromboembolic events occurring in pregnancy, History of repeated pregnancy loss, Preconception evaluation and counseling during the periconception period, Asymptomatic cardiovascular risk appraisal, including atherosclerosis, coronary artery disease, and myocardial infarction, Prior child affected by an isolated neural tube defect, Estimating susceptibility to adverse effects from antifolate chemotherapy (eg, methotrexate) |
Namunangiz talablari
| Namunangiz | To'liq qon |
|---|---|
| Container | Lavanda qopqoqli probirka (K3 EDTA) |
References
Clarke R, Daly L, Robinson K, et al. Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med. 1991;324:1149-1155. PMID: 2011158
Kluijtmans LA, van den Heuvel LP, Boers GH. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet. 1996;58(1):35-41. PMID: 8554066