Unogona sei kuziva kana iwe une genetic mutations iyo inogona kutungamirira ku cystic fibrosis (CF) mumwana wako? Sei tisingakwanisi kugara tichiziva kana mumwe munhu ane chimiro chinogona kutungamirira ku cystic fibrosis? Uye nei kuedza kunodhura?
Overview
Zvakakosha kurondedzera zvakananga maitiro ekuongorora maitiro e cystic fibrosis zvinoreva kunzwisisa mibvunzo iyi. Isu tine miedzo inogona kuongororwa ne cystic fibrosis muvana, kunyange pakuberekwa , zvisati zvaitika zviratidzo zviripo.
Kuedzwa kwenyika inotakura, zvisinei, zvakasiyana.
Kuongorora maitiro ekugadzirisa maitiro e-cystic fibrosis kunosanganisira kuedza munhu asina, uye haazobudi, maitiro ekuchinja aanogona kupa kune vana, izvo zvinogona kutungamirira ku cystic fibrosis.
Inofungidzirwa kuti muUnited States, vanhu vanopfuura 30 000 vane cystic fibrosis uye vanopfuura mamiriyoni gumi vanotakura chirongwa che cystic fibrosis . Munhu anotakura haana chirwere kana chimwe chezviratidzo asi anokwanisa kudarika CF kune mwana.
Genetics 101
Zvitema zviratidzo zvedu zvemagetsi uye zvinotakura kutakura ruzivo rwezvinhu zvose kubva kumeso emuziso kune zvakagadzirwa nemakemikari anochera zvokudya mumagumbeti edu. DNA yedu yakaumbwa nemakromosomes makumi mana, makumi maviri namashanu kubva kumadzimai edu uye 23 kubva kumadzibaba edu.
A gene chikamu chakasiyana che chromosome. Majini edu, zvakare, akaumbwa nemakwikwi eine amino acids, iyo inoshanda se "tsamba" iyo, kana yakabatanidzwa, inotaura "mazwi." Kushandurudza kunoreva chero kukanganisa kwejeni umo mararamiro ezvinyorwa izvi akabatanidzwa.
Ikoko kunogona kuva tsamba dzisipo, tsamba dzinowedzerwa, kana dzinogona kugadziriswa nenzira dzakasiyana-siyana.
Zviri nyore, iwe unogona kufunga nezvekuchinja kwemashoko sezwi mumutsamba. Kana tsamba isipo kana kuti yakarongedzerwa, shoko rakasiyana rinotsanangurwa. Mumuviri, DNA yedu "inoshandurwa" mukuumbwa kwemapuroteni.
Apo kushanduka kunoguma mukugadzirwa kwemapuroteni asina kukwana, zvirwere zvakadai se cystic fibrosis zvingaguma.
Genetics & Cystic Fibrosis
Kuongorora maitiro ejastic fibrosis kunoitwa kuti uone kana munhu ane, kana kuti anotakura, cystic fibrosis. Chiyero chinowanzoitwa pamusana weropa, asi dzimwe nguva zvinogona kuitwa kune mamwe DNA-ane masero akadai sasib kubva mukati mematama. Muenzaniso wacho unoongororwa pane imwe nzvimbo yechishanduko ye cystic fibrosis transmembrane regulator (CFTR) gene .
Munhu wose ane makopi maviri eCFTR gene mune imwe neimwe yemasero avo. Kana imwe kopi, iyo inozivikanwawo sekuti allele inowanikwa kuva nekuchinja, munhu wacho anotakura. Kana mabhuku ose ejeni achinjwa, munhu ane cystic fibrosis chirwere.
Kuti mwana atange cystic fibrosis, vanoda kugara nhaka mazai maviri anoshandurwa, imwe kubva kuna amai vavo uye imwe kubva kuna baba vavo. Kana chete mai kana kuti baba vane mutambo wakashandura, mwana wacho anogona kuva mutakuri wehutsika hweCF, asi haazokudziri cystic fibrosis.
Kuchinja kwemuviri mujeni hakuwanzo kune imwe chete. Pane kudaro, kune nzira dzakawanda dzakasiyana-siyana umo geni ringangodaro risingaiti. Kune zvinopfuura 1 500 zvakasiyana-siyana zveCFTR mutations dzinozivikanwa kuti dzinokonzera CF, uye zvitsva zvitsva zviri kuwanikwa sezvo kutsvakurudza pamusoro pegene kuchiri mberi.
Hapana cheko chekuongorora kwezvose zvinokonzerwa nekuchinja kweCF, asi kuongororwa kwakawanda kuripo kuongororwa kweCFTR dzakachinja zvikuru. Mari inoshandiswa pakuongorora mazita emaronda kubva kune mazana mashomanana kusvika kune zviuru zvuru zvemadhora, uye inogona kana kuti irege kuvharwa ne inshuwarisi.
Genetic Testing for Cystic Fibrosis
Icho chinonzi genetic test ye cystic fibrosis dzimwe nguva inonzi inonzi ACMG / ACOG Mutation Panel kana 23-mutation panel, inotarisa zvinowanzoitika kuCFTR mutations. Iyi miedzo inenge inenge 90 muzana inoshanda pakuona kuchinja kweCF muhuwandu hweCaucasian, asi inenge 70 muzana chete inoshanda muAfrica America uye 60 muzana inoshanda muvanhu veSpain.
Chiyero chacho chinowanikwa munzvimbo dzakawanda dzemunharaunda uye munzvimbo dzomumatare, asi kushanduka kwakanyatsoedzwa kunozosiyana maererano nemaitiro ebazi. Mamwe mabhiza anotarisa zvimwe zvekuchinja, asi chiyamuro chekutanga chinofanira kunge chinosanganisira mararamiro makumi maviri nematanhatu anorumbidzwa neAmerican College of Medical Genetics (ACMG) uye American College yeAvistetricians uye Gynecologists (ACOG). Migumisiro inowanzowanikwa mukati memazuva mashomanana asi inogona kutora nguva yakareba kana shanduro yacho inofanira kutumirwa kubhuku guru rekuedzwa.
Mamwe makambani akave nokugadzira miedzo inogona kuona kushanduka kuduku kunowanzoenderana neavo vari mu ACMG / ACOG panotaurirwa panhare. Iyi miedzo inogona kubatsira zvikuru pakuona kusanzwisisika kwema cystic fibrosis kana ichiitwa sekutevera upi kana sarudzo huru yakabudisa zvigumisiro zvizere.
Vamwe vanhu vanosarudza kuongorora izvi zvakanyanya pakuedza kwavo, kunyanya kana vachida kuva neCFTR mutation shoma. Idzo miedzo yakakosha inonyanya kukosha uye inofanira kutumirwa kumairabhu anovapa. Iyi miedzo inogona kudhura zvakawanda uye inotora nguva yakareba kuti igamuchire mhinduro kunze kweiyo huru yekuongorora panowanikwa panzvimbo yebasa remunharaunda.
Kana uri kutarisa kuongororwa kwechirwere ye cystic fibrosis, zvakakosha zvikuru kutaurirana neine genetic advisor. Kakawanda, kuongororwa kwakawanikwa kuine maitiro akanaka munzira dzakasiyana-siyana, kubva pakubvumira vabereki kuti vave nehasha nekuedza kwepamuviri kuitira kuti mwana wavo apiwe kurapwa achitanga pakuberekwa kupa kuvimbiswa kune avo vanoona kuti havasi vatakuri vehutano.
Kune avo vasina pamuviri panguva yekuedzwa, asi vachiwana kuti vari vatakuri, pane dzakawanda-zvinokanganisa moyo nemafungiro evanhu ivo pachavo izvo zvinoda kunyatsofungisisa nekusigirwa kwakanyanya.
Sources:
Brennan, M., naI Schrijver. Cystic Fibrosis: A Review of Associated Phenotypes, Kushandiswa kweMaselo ekuona zviratidzo, Maitiro eGenetic, Kufambira mberi, uye Dilemmas. Journal of Molecular Diagnostics . 2016. 18 (1): 3-14.
Dugueperoux, I., The Hostis, C., Audrezet, M et al. Kujekesa Chiitiko cheCascade Carrier Testing muCystic Fibrosis Mhuri. Zvinyorwa zveCystic Fibrosis . 2016. 15 (4): 452-9.
Straniero, L., Solda, G., Costantino, L. et al. Whole-Gene CFTR Sequencing Yakakonzerwa neD Digital RT-PCR Inovandudza Genetic Diagnosis yeCystic Fibrosis. Nyaya yeHuman Genetics . 2016. 61 (12): 977-984.