Yaya zaku iya gano ko kuna da maye gurbin kwayoyin halitta wanda zai iya haifar da cystic fibrosis (CF) a cikin yaro? Me ya sa ba zamu iya sani ko yaushe wani yana da maye gurbi wanda zai iya haifar da cystic fibrosis? Kuma me yasa gwajin yake da tsada sosai?
Bayani
Yana da mahimmanci don bayyana ainihin abin da gwajin kwayoyin ga cystic fibrosis na nufin fahimtar wadannan tambayoyi. Muna da gwaje-gwaje wanda zai iya gano asalin cystic fibrosis a cikin yara, har ma a haife , kafin wani bayyanar cututtuka ya kasance.
Gwaje-gwaje ga jihar mai fadi, duk da haka, ya bambanta.
Kwararrun kwayoyin gwaji ga maye gurbin ƙwayoyin cuta ya haɗa da gwajin mutum wanda ba shi da, kuma ba zai ci gaba ba, maye gurbin jinsin da zai iya ba wa 'ya'yan, wanda hakan zai iya haifar da cystic fibrosis.
An kiyasta cewa, a Amurka, fiye da mutane 30,000 suna da cystic fibrosis kuma fiye da mutane miliyan 10 suna ɗaukar nau'in tsarin kyama . Mai ɗaukar hoto ba shi da cutar ko wani daga cikin alamun bayyanar cutar amma yana iya bada cajin ga ɗan yaro.
Genetics 101
Genes ne tsarin mu na halitta kuma suna kula da ɗaukar bayanai ga duk wani abu daga launin ido don tsara zanen enzymes wanda ke samar da abinci a jikin mu na narkewa. DNA ta ƙunshi 46 chromosomes, 23 wanda ya fito ne daga uwayen mu da 23 daga kakanninmu.
Hanyoyin halitta wani sashi ne na ɓangaren chromosome. Gwargwadon mu, daga bisani, sun hada da haɗuwa da amino acid guda hudu, waɗanda suke aiki a matsayin "haruffa" waɗanda, idan aka haɗu su, zayyana "kalmomi". Mutuwa yana nufin duk wani lalacewa ga jigilar halittar da aka sanya wajan haruffan.
Akwai haruffa da suka ɓace, haruffa da aka kara da su, ko ana iya raya su a hanyoyi daban-daban.
A taƙaice, zakuyi tunanin maye gurbin a matsayin kalma cikin wasika. Lokacin da wasika ya ɓace ko sake tsara shi, an buga kalma daban. A cikin jiki, DNA tana "fassara" a cikin samuwar sunadaran.
Lokacin da maye gurbi ya haifar da samar da gina jiki mai gina jiki, cututtuka irin su cystic fibrosis na iya haifar da su.
Genetics & Cystic Fibrosis
Kayan gwaje-gwaje na kwayoyin halitta don cystic fibrosis an yi domin sanin idan mutum yana da, ko kuma mai ɗaukar nauyin, cystic fibrosis. Ana gwajin gwaji akan samfurin jini, amma wani lokaci za'a iya yin aiki akan sauran kwayoyin halittar DNA kamar swab daga cikin kunci. Ana nazarin samfurin don wani bangare na maye gurbi na gwargwadon ƙwayar transmembrane mai sarrafawa (CFTR) .
Kowane mutum yana da nau'i biyu daga cikin jigilar CFTR a kowane ɗayan su. Idan ana kwafi kwafi daya , wanda aka sani da allele yana da maye gurbin, mutumin yana mai hawa. Idan duka sunaye guda biyu , mutum yana da cututtukan kyariyar fibrosis.
Don yaron ya ci gaba da cin hanci da filarosis, suna bukatar su sami gado guda biyu wadanda aka canza, daya daga uwarsu kuma ɗaya daga mahaifinsu. Idan kawai mahaifiyarsa ko mahaifa ke da mummunar halitta, yaro zai iya zama mai ɗaukar nau'in kamfani na CF, amma ba zai inganta cystic fibrosis ba.
Komawa cikin jinsi ba yawanci ne kawai ba. Maimakon haka, akwai hanyoyi daban-daban wanda wata halitta zata iya zama mahaukaci. Akwai fiye da 1,500 maye gurbin CFTR wanda aka sani ya haifar da CF, kuma an gano sababbin maye gurbin yayin bincike a kan ginin.
Babu gwajin gwaji ga duk yiwuwar CF-haddasa maye gurbin, amma ana samun gwaje-gwaje da dama don duba yawan maye gurbin na CFTR. Kudin gwaji na kwayoyin jigilar daga jimillar dari zuwa dubban miliyoyin daloli, kuma inshora zai iya zama ko mai yiwuwa.
Nazarin Halitta na Fibrosis na Cystic
Kwararrun kwayoyin gwajin kwayoyin cutar cystic fibrosis wani lokaci ake magana da su kamar ACMG / ACOG Mutation Panel ko 23-mutation panel, yana nema ga maye gurbin CFTR mafi yawancin. Wannan gwaji yana kimanin 90 bisa dari na tasiri a gano wasu maye gurbin CF a Caucasian, amma kimanin kimanin kashi 70 cikin 100 a cikin jama'ar Afrika da kashi 60 cikin dari a cikin yawan mutanen Hispanic.
Ana gwajin gwaji a yankunan gida da na yanki, amma ƙayyadaddun tsari da aka jarraba su zai bambanta bisa ladabi na layi. Wasu labs bincika ƙarin maye gurbin, amma gwajin gwaji ya kamata a haɗa akalla 23 maye gurbin shawarar da Cibiyar Kasuwancin Amirka ta Kwararrun Kwayoyin Kasuwanci (ACMG) da Cibiyar Koyarwar Amirka ta Obstetricians da Gynecologists (ACOG). Sakamako yawanci ana samuwa a cikin 'yan kwanaki amma zai iya ɗaukar tsawon lokaci idan an aika da samfurin zuwa babban ɗakil don gwaji.
Wasu kamfanoni sun ƙaddamar da gwaje-gwaje wanda zai iya gano ƙananan canje-canje na kowa banda waɗanda suke cikin kwamitin ACMG / ACOG. Wadannan gwaje-gwaje na iya taimakawa musamman wajen ganewa maye gurbin da ake yi a lokacin da aka yi a matsayin gwaje-gwaje idan ƙaddamarwa ta fito da sakamakon al'ada.
Wasu mutane sun fita don su gwada gwajin gwaji don gwadawa ta farko, musamman idan suna iya samun maye gurbi na CFTR na ƙasa. Gwaje-gwajen da aka ci gaba sune na musamman kuma dole ne a aika zuwa ɗakunan da ke ba su. Wadannan gwaje-gwajen na iya ƙada kuɗi kuma suna da tsayi don karɓar sakamako fiye da tsarin gwajin da aka yi a ɗakin gida.
Idan kuna la'akari da gwaji mai amfani don cystic fibrosis, yana da mahimmanci a yi magana da wani mai ba da shawara na kodayake. Yawanci, an gano gwajin samun tasiri mai kyau a hanyoyi da yawa, ya kasance daga barin iyaye su kasance masu tsauri tare da gwagwarmaya ta jarirai don a iya kula da yaron da aka fara tun lokacin haifuwa don bada tabbaci ga wadanda suka gano cewa ba su da hannu.
Ga wadanda ba su da juna biyu a lokacin gwaji, duk da haka suna ganin cewa su masu sufuri ne, suna da yawa da zaɓin zuciya da kuma zaɓin mutum wanda zai buƙaci yin la'akari da hankali da goyon baya mai yawa.
Sources:
Brennan, M, da I. Schrijver. Fibrosis na Cystic: Binciken Ƙwararren Ƙwararren Ƙwararrun, Amfani da Harkokin Harkokin Sakamakon Ƙwararren Ƙwararren Ƙwayoyin cuta, Halittar Harkokin Halitta, Ci gaba, da Dilemmas. Littafin Labaran Magungunan Lafiya . 2016. 18 (1): 3-14.
Dugueperoux, I., L'Hostis, C., Audrezet, M et al. Bayyana tasiri na gwajin gwaje-gwajen Cascade a cikin iyalan Fibrosis na Cystic. Journal of Cystic Fibrosis . 2016 15 (4): 452-9.
Straniero, L., Solda, G., Costantino, L. et al. Rikicin RT-PCR na Halitta na Ƙarshe na Fifa yana inganta ilimin kimiyya na Cystic Fibrosis. Jaridar Human Genetics . 2016. 61 (12): 977-984.