He aha ai mate ira

mate ira ngā te rōpū nui o mate e ara ake i ngā rerekētanga i roto i te hanganga ira. Kia kitea o roto i te mea ko nga take o enei pathologies.

Gene o mate tangata e te nuinga meinga e irakētanga i roto i te ira hanganga, e kawe atu ratou mahi i roto i te kōtuitui o polypeptides, i roto i te kupu atu - te pūmua. Tetahi irakētanga ira e titau huringa i roto i te hanganga nui ranei o te pūmua.

tīmata taua mate ki te pānga tuatahi o te irarā mutant. Ki te tamata tetahi ki te whakaatu schematically irakētanga ira tangata, i reira ka tuatahi kia he irarā mutant, e rere ki te hua tuatahi whakarerekētia, hua i roto i te pūtau haere te mekameka o tukanga matüora, hua i roto i ārahi ki huringa i roto i te whēkau, me te kopa, a ka te rauropi katoa.

Whakaaro i te mate iranga i te taumata rāpoi, e taea te tāutuhia enei rerekē:

- production o te nui i te taikaha o te hua ira,

- te ariā o te pūmua rerekē

- te kore o te hanga,

- me te te hanga o te nui iti o te hua tuatahi.

e kore e mate iranga mutu i te taumata rāpoi. ki te whakawhanake i i te taumata pūtau tonu ratou pathogenesis. I roto i tenei hononga kia tuhia te reira e te mata o te tono o te ira whakarerekētia i roto i tini o nga mate e taea e tinana e rua i roto i te whānui, me motuhake hanganga pūkoro pērā i kiriuhi, peroxisomes, lysosomes, pungaraungao.

He āhuatanga nui o abnormalities ira ko e ratou faaiteraa haumanu, me te te auau me te pakeke o te whanaketanga takoto te i te taumata o te tohuira o te rauropi, i te tikanga taiao, tau o te manawanui, me te rite.

He āhuatanga āhuatanga o te heterogeneity ira ko pathologies. fokotu'u mai tenei e kia tika ki irakētanga rerekē e puta i roto i te ira kotahi ranei i roto i ira rerekē te faaiteraa tohuāhua o te mate. I whakatūria tuatahi tenei i roto i te tau 1934 e te kairangahau ingoa i roto i te mara o iranga S.N.Davidenkovym.

Ko ngā momo monogenic o abnormalities ira, rite ki te ture o Mendel, kua riro ratou. I roto i te tahuri, ka taea te wehea puka monogenic i te momo o te tupu, ara autosomal ngoikore, autosomal tino, ka honoa ki te y- X-pūira ranei.

Ka taea te whakarōpūtia mate ira katoa i te maha o ngā huanga, a ka te rōpū nui rawa i roto i tenei take e riro mate pūkoro. Tata ki te katoa o ratou no ki te tikanga ngoikore autosomal. Ko te take o enei tikanga pathological ko te kore o te pūmua whākōkī ngā i te kawenga mō te kōtuitui o ngā waikawa amino. Ēnei ngā mate pērā i phenylketonuria, kirikōtea kanohi-waihakihaki me homogentisuria.

Ko te rōpū i muri nui o mate ira e pā ana ki disorders pūkoro tinana. mate glycogen, galactosemia - he tauira no ki tenei rōpū.

Aru e mate e kua pā hāngai ki te lipid pākia - ara mate Gaucher, mate Niemann-Pick me te rite.

mate ira i roto i te tangata, haunga te hunga whakahuatia kua, Whakaröpütia

- mate tuku o te pyrimidine me purine pākia,

- pathologies e pā ana ki disorders kiko tūhonohono,

- disorders tuku iho o komuhumuhu pūmua,

- mate o hāngaitanga tika ki disorders pākia i roto i erythrocytes,

- konganuku tuku māuiuitanga utu,

- me syndromes e meinga tukanga malabsorption i roto i te pūnaha kūnatu.

I tua atu ki te runga ake te tāpiri i tatou e hāngai ana i te whakatūnga o te āhua tuku iho o te mate kei runga i te tikanga haumanu, me te whakapapa.