Irakētanga ira

irakētanga ira - e ko te take hoki i te mea te hanganga o te rōpū heterogeneous o faaiteraa haumanu o mate, e kiia nei ko "mate ira". Ko te auau whānui o ratou tupu i roto i te taupori tangata e rua ki te wha ōrau.

Kei te whakapataritari Huri (irakētanga) ira te whanaketanga o maha momo o mate tuku tauwehe. I roto i te rongoā hou, whakaahuatia neke atu i toru mano o enei pathologies. He fermentopathy te faaiteraa tino noa o te mate. Kei te whakapono te reira e taea irakētanga ira pā fetal, waka me pūmua hanganga. Ka taea te whakatinana huringa pathological i roto i wā rerekē o ontogenesis (whanaketanga). Ratou angamaheni mo te nuinga o te intrauterine (ki runga, ki te 25% o pathologies tuku) me dopubertatnogo (i mua i pūhuruhurutanga) wā (e pā ana ki 45%). ngā irakētanga ira puta i roto i te taiohitanga (pūhuruhurutanga) me te wā punua (e pā ana ki 25%). Āhua nui iti (e pā ana ki 10%) pāpaka kitea i runga i rua tekau nga tau.

mate ira Whakaröpütia rite ki momo kainga (autosomal ngoikore, autosomal tino me ētahi atu), i runga i te okana ranei pūnaha, wāhi atu i roto i te tukanga pathological (endocrine, uauaio, ocular, me ētahi atu) rānei, i runga i te āhua o te koha pūkoro rānei (e pā ana ki whakararuraru o te warowaihā, kohuke me te tahi atu pākia lipid.). Hoki rōpū motuhake ngā mate e puta i runga i te whakamārama o te incompatibility fetal me whaea o antigens i roto i te rōpū toto.

Pōreareatanga e irakētanga germline, riro mate i roto i runga i te ture o Mendel. Pea te putanga o te whanaketanga hou ranei riro i whakatupuranga mua huri. I roto i ngā take pēnei i, e tohaina hanganga pathological i roto i ngā pūtau tinana katoa.

kia puta ngā irakētanga ira i roto i tetahi o nga pūtau i ngā wāhanga rerekē o kuru te whakatō kākano. I roto i ngā take pēnei, riro te tinana i te mosaic mo te hanganga. I roto i te mau parau te tahi atu, i roto i te tahi mau pūtau mahi irarā noa (puka o te ira), me te i roto i etahi atu - mutant. whakakitea tohuāhua irakētanga mana (tohu haumanu) i roto i te pūtau tēnā me whakaoho te whanaketanga o te mate. I te wa ano i reira he he tūponotanga ka rawaka o te mate iti kino, rite te ātete ki te mutants tonu.

Tohunga whakarōpū huringa i roto i te mahi, me te hanganga.

irakētanga ira Structural roherohea ki whakawhitinga - te whakakapinga o tetahi turanga purine (pūhui organic o pārōnaki tūturu, purine) ki tetahi, ranei kotahi turanga pyrimidine (ngā pūhui matū waro - pārōnaki pyrimidine) e tetahi turanga pyrimidine; ai te codon (wae waehere ira) taui kotahi anake i roto i i puta te whakauru. He hoki he mea pēnei i "transversion". I roto i tenei take i reira ko te whakakapinga o te purine pyrimidine ranei nga turanga hurihia. Ka huri tēnei rite te codon i roto i nei whakakapinga take. I tua atu, i reira he he irakētanga frameshift. Ko te kupu i reira ko te mate (mukunga) ranei whakaurunga (whakaurunga) o tetahi ranei e rave rahi takirua nucleotide. I roto i runga ki te mate te wahi kōkuhu ki ranei kia rerekē atu iti iho ranei codons.

Irakētanga i roto i te ira, he huringa mahi i roto i te (waehere) wāhanga o te kore-patohia hōutia rāpoi ngota pītauira. whakaoho tenei he mate o te ture o te mahi o nga huānga hanganga. kia hua tenei i roto i te hua heke ranei i roto i te auau o te ariā o te pūmua hāngai ki tu'unga kehekehe.