Ngā Ira Whakarerekētanga me ngā Mate Tuku Iho
Ko ngā whakarerekētanga ira he huringa tuturu i roto i te raupapatanga DNA e hanga ana i ō tātou ira. Ko ngā ira ngā waeine taketake o te ira tuku iho e whakatau ana i ngā āhuatanga tinana me te tinana o te rauropi. Ka puta noa ngā whakarerekētanga ira i te wā e whakaputarua ana te DNA, ka puta rānei i ngā āhuatanga taiao pēnei i te irahiko me ngā matū. Ahakoa he koretake, he pai rānei te nuinga o ngā whakarerekētanga ira, ka taea e ētahi te whakaputa i ngā mate tuku iho kino.
He aha te Mutation?
Ko ngā whakarerekētanga ira he panoni i roto i te raupapa o ngā nucleotide e hanga ana i tētahi ira, i tētahi rōpū ira rānei. Ka puta ngā whakarerekētanga ira i roto i ngā āhua maha, tae atu ki:
1. Te whakarerekētanga ira: He whakarerekētanga tēnei i roto i te takirua turanga kotahi o te DNA. Hei tauira, he whakarerekētanga mai i te adenine (A) ki te guanine (G).
2. Ngā whakarerekētanga ira whakauru me te muku: Ko te whakaurunga e pā ana ki te tāpiri i tētahi, neke atu rānei o ngā takirua turanga ki roto i te DNA, ko te mukunga ia e pā ana ki te tango i tētahi, neke atu rānei o ngā takirua turanga.
3. Te tāruarua ira: Ka tāruaruatia tētahi wāhanga DNA, ka hua ake he rerekētanga ira.
4. Te whakarerekētanga ira whakamuri: Ka tapahia he wāhanga o te DNA ka whakaurua anō ki te raupapa whakamuri.
5. Ngā whakarerekētanga ira tangata: Ngā huringa o te hanganga, te maha rānei o ngā ira tangata, pērā i te trisomy 21 e hua ai te Down syndrome.
Ka puta noa ngā whakarerekētanga ira ira i te matapōkere, ka puta rānei i ngā āhuatanga o waho e kiia nei ko ngā mutagens, pērā i te mārama ultraviolet, ngā matū, me ngā huaketo.
Ngā Mate Tuku Iho i Puta Mai i ngā Ira Whakarerekētanga
Ko ngā mate tuku iho ka puta mai i ngā whakarerekētanga ira i roto i te ira kotahi (ngā mate monogenic) i ngā whakarerekētanga ira maha rānei (ngā mate polygenic). Anei ētahi tauira o ngā mate tuku iho e hono pinepine ana ki ngā whakarerekētanga ira:
1. Te Pūnaha Pūnaha Kirikiri
Ko te cystic fibrosis tētahi o ngā mate ira tino noa, tino kino hoki, inā koa i waenga i te hunga uri Pākehā. Nā ngā whakarerekētanga ira i roto i te ira CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) i puta ai, e whakararuraru ana i te mahi noa o ngā awaawa pūhaumāota i roto i ngā pūtau. Ka hua ake tēnei whakararuraru i te whakaputanga o te hūpē matotoru, piri, ka ārai i ngā awaawa i roto i ngā pukahukahu me te repe taiaki, ā, ka mutu, ka hua ake he raruraru nui ki te manawa me te nakunaku.
2. Te mate a Huntington
He mate pūnaha io te mate a Huntington, ā, e tohuhia ana e ngā nekehanga koretake, ngā raruraru kare ā-roto, me te hekenga o te hinengaro. Nā te whakarerekētanga ira i roto i te ira HTT i runga i te ira 4 i puta ai, e meinga ai tētahi wāhanga o te DNA e kiia nei ko te whakahokinga CAG kia puta pinepine atu i te tikanga. Ko te nui ake o ngā whakahokinga CAG, ko te nui ake o te tūponotanga me te kaha ake o ngā tohu o te mate.
3. Te mate toto o te pūtau hāripiri
Ko te mate toto toto iti (anemia) he mate toto tuku iho i puta mai i ngā whakarerekētanga ira i roto i te ira HBB. Ka hua ake i tēnei whakarerekētanga te hanga hemoglobin rerekē, ka pā ki te āhua o ngā toto toto whero. Ka taea e ēnei pūtau āhua-marama te aukati i ngā oko toto, ka puta te mamae nui, ngā mate, me ētahi atu raruraru.
4. Te mate Down
Ko te mate Down syndrome he tauira o te mate i puta mai i te whakarerekētanga ira, arā, te noho mai o tētahi tārua tāpiri o te ira 21 (trisomy 21). Ka puta mai i tēnei āhuatanga ngā momo whakaroa whanaketanga me ngā raruraru hauora pērā i ngā mate ngākau whānau me ngā mate pūnaha nakunaku.
Te Kimi me te Tātaritanga o ngā Ira Whakarerekētanga me ngā Mate Tuku Iho
Mā ngā hangarau o nāianei ka taea te kite wawe i ngā whakarerekētanga ira ka puta ai ngā mate tuku iho mā roto i ngā tikanga tātaritanga maha, pēnei i:
– Whakamātautau ira: Mā te tātari i te DNA, te RNA, ngā chromosome, ngā pūmua, ngā matū whakaputa rānei, ka taea e te whakamātautau ira te kite i ngā whakarerekētanga ira e mōhiotia ana hei take mō te mate.
– Te whakamātautau amniocentesis me te chorionic villus sampling (CVS): He tikanga hapūtanga ēnei e taea ai te kite i ngā āhuatanga rerekē o te ira tangata pēnei i te Down syndrome.
– Hangarau CRISPR-Cas9: Ka taea e tēnei hangarau te whakatika, te whakatika rānei i ngā ira kua whakarerekētia, ahakoa kei roto tonu i te wāhanga rangahau me te whanaketanga i roto i te horopaki haumanu.
Te Whakahaere i ngā Mate Tuku Iho
Kia kitea he mate ira, ko te maimoatanga me te whakahaere ngā mahi e whai ake nei. Ka whakawhirinaki tēnei huarahi ki te momo me te kaha o te mate, tae atu ki ngā tohu e puta ana. Ko ētahi rautaki whakahaere ko:
– Maimoatanga hauora me te pokanga: He maha ngā mate tuku iho e hiahia ana ki te maimoatanga hauora motuhake, pērā i te whakamahinga o ngā paturopi hei rongoā i ngā mate pukupuku i roto i te cystic fibrosis, i te pokanga ngakau rānei mō ētahi hapa ngakau whānau.
– Te whakaora ira: Ahakoa kei te whanake tonu, ko te whāinga o te whakaora ira he whakakapi, he whakakore, he whakatika rānei i ngā ira hapa hei rongoā i te mate.
– Te tohutohu ira: Te whakarato mōhiotanga me te tautoko ki ngā tāngata takitahi me ngā whānau mō ngā mōrearea ira, te ārai, me te urutau ki ngā mate ira.
Whakamutunga
He mea nui te mahi a ngā whakarerekētanga ira i roto i te whanaketanga me te kanorau koiora. Heoi, ina puta mai ngā mate tuku iho i ēnei whakarerekētanga, ka puta ake ngā wero hauora me ngā wero pāpori uaua. I te whanaketanga o te rangahau ira me te hangarau koiora, ka piki haere tonu tō tātou māramatanga me te kaha ki te kite, ki te ārai, me te rongoā i ngā mate ira.
Mā te mahi tahi a ngā kaipūtaiao, ngā tākuta, me ngā tūroro, e tūmanakohia ana ka whakawhanakehia ake ngā rongoā auaha me ngā rautaki ārai hei whakapai ake i te kounga o te oranga mō ngā tāngata whai mate ira me te whakaiti i te pānga o ngā mate tuku iho ki te hapori. Nō reira, ko te mōhiotanga mō ngā whakarerekētanga ira me ngā mate tuku iho ehara i te mea ka hohonu ake tō tātou māramatanga ki te koiora tangata engari ka whakarato hoki i a tātou ki ngā taputapu hei hanga i tētahi heke mai pai ake mō te hauora.
