MTHFR Mutation Ule

Ndinaya

• Kedu ihe bụ MTHFR mutation test?
• Kedu ihe eji ya?
• Kedu ihe kpatara m ji chọọ nnwale MTHFR?
• Kedu ihe na - eme n'oge ule MTHFR mgbanwe?
• Ọ dị m mkpa ime ihe ọ bụla iji kwadebe maka ule ahụ?
• Onwere ihe egwu di n’ule a?
• Kedu ihe nsonaazụ ahụ pụtara?
• Enwere ihe ọ bụla ọzọ m kwesịrị ịmara gbasara ule MTHFR mutation?
• Ntughari

Kedu ihe bụ MTHFR mutation test?

Nnwale a na-achọ ngbanwe (mgbanwe) na mkpụrụ ndụ ihe nketa a na-akpọ MTHFR. Ihe nketa bụ ihe nketa sitere n'aka nne gị na nna gị.

Onye ọ bụla nwere mkpụrụ ndụ MTHFR abụọ, nke ketara n’aka nne gị na otu nne nna gị. Mmebi nwere ike ime na otu ma ọ bụ ma mkpụrụ ndụ MTHFR. E nwere ụdị MTHFR dị iche iche. Nnwale MTHFR na-achọ abụọ n'ime mgbanwe ndị a, a makwaara dị ka iche iche. A na-akpọ ụdị MTHFR C677T na A1298C.

Mkpụrụ ndụ MTHFR na-enyere ahụ gị aka imebi ihe a na-akpọ homocysteine. Homocysteine ​​bụ ụdị amino acid, mmiri ọgwụ ahụ gị na-eji eme protein. Dị ka ọ dị, folic acid na vitamin B ndị ọzọ na-akụda homocysteine ​​wee gbanwee ya n'ihe ndị ọzọ ahụ gị chọrọ. Mgbe ahụ, obere homocysteine ​​kwesịrị ịhapụ n'ọbara.

Ọ bụrụ na ị nwere MTHFR mutation, mkpụrụ ndụ MTHFR gị nwere ike ọ gaghị arụ ọrụ nke ọma. Nke a nwere ike ime ka ọtụtụ homocysteine ​​wulite n'ime ọbara, na-eduga n'ọtụtụ nsogbu ahụike, gụnyere:

• Homocystinuria, nkwarụ nke na-emetụta anya, nkwonkwo, na ikike nghọta. Ọ na-amalitekarị na nwata.
• Ihe ize ndụ dị ukwuu nke ọrịa obi, ọrịa strok, ọbara mgbali elu, na mkpụkọ ọbara

Na mgbakwunye, ụmụ nwanyị nwere mgbanwe MTHFR nwere nnukwu ihe ize ndụ nke ịmụ nwa nwere otu n'ime ntụpọ ọmụmụ ndị a:

• Spina bifida, nke a maara dị ka nkwarụ akwara ozi. Nke a bụ ọnọdụ nke ọkpụkpụ nke ọkpụkpụ azụ adịghị emechi kpamkpam gburugburu eriri afọ.
• Anencephaly, ụdị ọzọ nke neural tube ntụpọ. N'ime nsogbu a, akụkụ ụbụrụ na / ma ọ bụ okpokoro isi nwere ike na-efu ma ọ bụ na-arụ ọrụ.

Can nwere ike belata ogo gị homocysteine ​​site na ị folụ folic acid ma ọ bụ vitamin B ndị ọzọ a nwere ike iwere dị ka mgbakwunye ma ọ bụ gbakwunye site na mgbanwe nri. Ọ bụrụ na ịchọrọ ị folụ folic acid ma ọ bụ vitamin B ndị ọzọ, onye na-ahụ maka ahụike gị ga-akwado nke nhọrọ kachasị mma maka gị.

Aha ndị ọzọ: plasma total homocysteine, methylenetetrahydrofolate reductase DNA mutation analysis

Kedu ihe eji ya?

A na-eji ule a chọpụta ma ọ bụrụ na ị nwere otu n'ime mgbanwe MTHFR abụọ: C677T na A1298C. A na-ejikarị ya eme mgbe ule ndị ọzọ gosipụtara na ị nwere ọkwa dị elu karịa ogo homocysteine ​​n'ọbara. Ọnọdụ dịka cholesterol dị elu, ọrịa thyroid, na ụkọ nri nwekwara ike bulie ogo homocysteine. Nnwale MTHFR ga-egosi ma ogo ogo ya ọ bụ site na mkpụrụ ndụ ihe nketa.

Agbanyeghị na mmụba MTHFR na-eweta nsogbu dị ukwuu nke nsogbu ọmụmụ, anaghị atụkarị aro maka ụmụ nwanyị dị ime. Nara ihe mgbakwunye folic acid n'oge afọ ime nwere ike belata oke ihe nrịanrịa ọmụmụ nwa. Ya mere, a gbara ọtụtụ ndị inyom dị ime ume ka ha were folic acid, ma ha nwere mgbanwe MTHFR.

Kedu ihe kpatara m ji chọọ nnwale MTHFR?

May nwere ike ịnwale ule a ma ọ bụrụ:

• Had nwalere ọbara nke gosipụtara ọkwa dị elu karịa homocysteine
• A chọpụtara onye ikwu dị nso na mmụgharị MTHFR
• Gị na / ma ọ bụ ndị ezinụlọ gị nwere akụkọ ihe mere eme nke ọrịa akwara akaghi aka ma ọ bụ nsogbu arịa ọbara

Nwa ọhụrụ gị nwekwara ike ịnwale ule MTHFR dịka akụkụ nke nyocha nwa amụrụ ọhụrụ. Nyocha nwa amụrụ ọhụrụ bụ nnwale ọbara dị mfe na-enyocha ọtụtụ ọrịa dị egwu.

Kedu ihe na - eme n'oge ule MTHFR mgbanwe?

Onye ọkachamara ahụike ga-ewere ihe nyocha ọbara site na akwara aka gị, jiri obere agịga. Mgbe etinyere agịga ahụ, a ga-achịkọta obere ọbara n'ime ule nyocha ma ọ bụ vial. Nwere ike na-eche ntakịrị ihe mgbe agịga na-abanye ma ọ bụ na-apụta. Nke a na-ewe ihe na-erughị nkeji ise.

Maka nyocha ọhụụ amụrụ ọhụrụ, onye ọkachamara ahụike ga-ehichapụ ikiri ụkwụ nwa gị mmanya na-aba n'anya ma jiri obere agịga mee ka ikiri ụkwụ ahụ. Ọ ga-anakọta ọbara ọbara ole na ole ma kee bandeeji na saịtị ahụ.

A na-eme nnwale ọtụtụ mgbe nwa ọhụrụ gbara ụbọchị 1 ruo 2, ọ na-abụkarị n'ụlọ ọgwụ ebe amụrụ ya. Ọ bụrụ na amụrụghị nwa gị n'ụlọ ọgwụ maọbụ na ị hapụla ụlọ ọgwụ tupu nwalee nwa ahụ, gwa onye na-ahụ maka ahụike gị banyere ịhazi usoro nyocha ozugbo enwere ike.

Ọ dị m mkpa ime ihe ọ bụla iji kwadebe maka ule ahụ?

Kwesighi nkwadebe ọ bụla pụrụ iche maka nnwale MTHFR.

Onwere ihe egwu di n’ule a?

O nweghi ezigbo ihe egwu diri gi ma obu nwa gi n’enye gi MTHFR. May nwere ike ịnwe obere ihe mgbu ma ọ bụ mmerụ ahụ ebe etinyere agịga ahụ, mana ọtụtụ mgbaàmà na-apụ ngwa ngwa.

Nwa gị nwere ike na-eche na ọ ga-adị obere mgbe ọkpọkọ ya ikiri ụkwụ, obere ọnya nwere ike ịdị na saịtị ahụ. Nke a kwesịrị ịpụ ngwa ngwa.

Kedu ihe nsonaazụ ahụ pụtara?

Nsonaazụ gị ga-egosi ma ị dị mma ma ọ bụ na-adịghị mma maka mgbanwe MTHFR. Ọ bụrụ na ọ dị mma, nsonaazụ ga-egosi nke n'ime mmụgharị abụọ ị nwere, yana ma ị nwere otu ma ọ bụ abụọ akwụkwọ mkpụrụ ndụ mutated. Ọ bụrụ na nsonaazụ gị adịghị mma, mana ị nwere ogo homocysteine ​​dị elu, onye na-ahụ maka ahụike gị nwere ike ịnye nyocha ọzọ iji chọpụta ihe kpatara ya.

Na agbanyeghị ihe kpatara oke ogo homocysteine, onye na-ahụ maka ahụike gị nwere ike ịkwado ị folụ folic acid na / ma ọ bụ mgbakwunye vitamin B ndị ọzọ, yana / ma ọ bụ gbanwee nri gị. Vitamin B nwere ike inye aka mee ka homocysteine ​​gị laghachi na nkịtị.

Ọ bụrụ na ị nwere ajụjụ gbasara nsonaazụ gị, gwa ndị ọrụ ahụike gị okwu.

Mụtakwuo maka ule nyocha ụlọ, akara ngosi, na nghọta nsonaazụ.

Enwere ihe ọ bụla ọzọ m kwesịrị ịmara gbasara ule MTHFR mutation?

Fọdụ ndị na-ahụ maka ahụike na-ahọrọ naanị ịnwale maka ogo homocysteine, kama ịme nyocha MTHFR. Nke ahụ bụ n'ihi na ọgwụgwọ na-abụkarị otu, ma ọ bụ na ọ bụghị elu homocysteine ​​na-ebute site na ngbanwe.

Ntughari

1. Velọ Ọgwụ Cleveland [Internet]. Cleveland (OH): velọ Ọgwụ Cleveland; c2018. Nnwale nke mkpụrụ ndụ ihe nketa ị na-achọghị; 2013 Sep 27 [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 4]. E si na ya: https://health.clevelandclinic.org/a-genetic-test-you-dont-need
2. Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Nyocha nwa amụrụ maka homocystinurias na nsogbu methylation: nyocha nhazi na ụkpụrụ nduzi. J Nketa Metab Dis [Internet]. 2015 Nov [zoro aka na 2018 Aug 18]; 38 (6): 1007–1019. E Nweta site na: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539
3. Ahụike Kidsmụaka site na Nemours [Internet]. Nemours Foundation; C1995–2018. Nnwale nyocha ọhụụ amụrụ ọhụrụ; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 3]. Odi na: https://kidshealth.org/en/parents/newborn-screening-tests.html?ref=search&WT.ac=msh-p-dtop-en-search-clk
4. Nnwale ụlọ nyocha na ntanetị [Intanet]. Washington DC: American Association maka Clinical Chemistry; C2001–2018. Homocysteine; [emelitere 2018 Mar 15; akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 2]. E Nweta site na: https://labtestsonline.org/tests/homocysteine
5. Nnwale ụlọ nyocha na ntanetị [Intanet]. Washington D.C ;; American Association maka Clinical Chemistry; C2001–2018. MTHFR Mgbanwe; [emelitere 2017 Nov 5; akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 2]. E Nweta site na: https://labtestsonline.org/tests/mthfr-mutation
6. Machị nke Dimes [Internet]. White Plains (NY): Machị nke Dimes; c2018. Nwa amụrụ ọhụrụ nyocha maka nwa gị; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 3]. E Nweta site na: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
7. Yolọ Ọgwụ Mayo: Laboratories Mayo Medical [Internet]. Ntọala Mayo maka Mmụta Ahụike na Nnyocha; C1995–2018. Nyocha ID: MTHFR: 5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Ọbara: Clinical and Interpretive; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 4]. E Nweta site na: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648
8. Merck Manual Consumer Version [Intanet]. Kenilworth (NJ): Merck & Co. Inc.; c2018. Homocystinuria; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 2]. E Nweta site na: https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/homocystinuria
9. National Cancer Institute [Internet]. Bethesda (MD): Ngalaba Ahụ Ike na Ọrụ Ndị Ọrụ U.S. NCI Dictionary of Cancer Okwu: gene; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 3]. Odi site na: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
10. Centerlọ Ọrụ Na-ahụ Maka Nkà Mmụta Ntugharị Na-atụgharị Anya: eticlọ Ọrụ Ozi Ọrịa Na-adịghị Mkpụrụ Ndụ [Internet]. Gaithersburg (MD): Ngalaba Na-ahụ Maka Ahụ Ike na Ọrụ Ndị Ọrụ U.S. Homocystinuria n'ihi MTHFR erughi; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 2]. O nwere site na: https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency
11. Centerlọ Ọrụ Na-ahụ Maka Nkà Mmụta Ntugharị Na-aga n'ihu: :lọ Ọrụ Na-ahụ Maka Ọrịa Ọrịa na Ahụhụ [Internet] Gaithersburg (MD): Ngalaba Na-ahụ Maka Ahụ Ike na Ọrụ Ndị Ọrụ U.S. MTHFR ụdị dị iche iche; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 2]. E Nweta site na: https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
12. NIH US Library nke Ọgwụ: Nkọwapụta etlọ Jenetik [Internet]. Bethesda (MD): Ngalaba Ahụ Ike na Ọrụ Ndị Ọrụ U.S. MTHFR mkpụrụ ndụ; 2018 Aug 14 [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 3]. O nwere site na: https://ghr.nlm.nih.gov/gene/MTHFR
13. NIH US Library nke Ọgwụ: Nkọwapụta etlọ Jenetik [Internet]. Bethesda (MD): Ngalaba Ahụ Ike na Ọrụ Ndị Ọrụ U.S. Gịnị bụ mkpụrụ ndụ ihe nketa na-esi apụta ma olee otú ngbanwe si apụta ?; 2018 Aug 14 [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 3]. O nwere site na: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
14. National Heart, Lung, na Ọbara Institute [Internet]. Bethesda (MD): Ngalaba Ahụ Ike na Ọrụ Ndị Ọrụ U.S. Nnwale ọbara; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 3]. E Nweta site na: https://www.nhlbi.nih.gov/health-topics/blood-tests
15. Ihe nchoputa ihe nchoputa [Ntaneti]. Nchọpụta nyocha; c2000–2017. Ule Ule: Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis; [akpọrọ 2018 Aug 18]; [ihe dị ka ihuenyo 3]. E Nweta site na: https://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=17911&searchString=MTHFR
16. Varga EA, Sturm AC, Misita CP, na Moll S. Homocysteine ​​na MTHFR Mutations: Njikọ na Thrombosis na Coronary Artery Disease. Mgbasaozi [Internet]. 2005 Mee 17 [zoro aka na 2018 Aug 18]; 111 (19): e289–93. E Nweta site na: https://www.ahajournals.org/doi/full/10.1161/01.CI

Ejila ozi dị na saịtị a dị ka onye dochie anya nlekọta ahụike ọkachamara ma ọ bụ ndụmọdụ. Kpọtụrụ onye na-ahụ maka ahụike ma ọ bụrụ na ị nwere ajụjụ gbasara ahụike gị.