E pā ana ngā irakētanga ira ki huringa i roto i te maha, me te hanganga o pūira

Tatari hoki te whanautanga o te tamaiti - te wa pai mo te matua, engari ano hoki i te kino. He tokomaha e māharahara e kia whanau ai te tamaiti ki tetahi hauātanga, tinana ranei hauātanga hinengaro.

e kore e Pūtaiao tu tonu, he reira taea ki te tirohia i runga i te tamaiti iti i roto i te hapū hoki te aroaro o abnormalities i roto i te whanaketanga. Tata e taea katoa o enei whakamātautau whakaatu ki te ok katoa ki te tamaiti.

Te aha e mea e taea te whanau te taua mau metua tamariki tino rerekē - tamaiti hauora me te tamaiti ki te hauātanga? tautuhi te reira i ira. I whanau pēpi teeki tamaiti ranei ki te hauātanga tinana pā irakētanga ira e pā ana ki ngā huringa i roto i te hanganga o te DNA. Ka kōrero tatou atu e pā ana ki taua. Kia kite a pehea tupu tenei, etahi irakētanga ira he, me o ratou take.

He aha te mea he irakētanga?

Irakētanga - he huringa i roto i te pūtau whaiaroaro, me te koiora i roto i te hanganga DNA. pea te take te rongo (i roto i hapūtanga kore e taea te tango pikitia o te X-ray, hoki whara me piere), hihi hihi katinga (roa ra te rongo i roto i hapūtanga, he i roto i te ruma ki te rama katinga ngā ranei). Hoki, ka taea te haere enei irakētanga i runga, ka riro i to tatou tupuna. Kua wehewehea katoa o ratou ki momo.

irakētanga ira ki huringa i roto i te hanganga pūira maha o ranei

irakētanga pūira - he irakētanga i roto i i puta ke te hanganga me te maha o ngā pūira. kia hinga rohe pūira ranei rua, oho ki te rohe nonhomologous, tahuri i te täkupu mo te rau, a e waru tekau nga nekehanga.

Ko te take o te irakētanga taua - te takahi i raro i krossengovere.

E pā ana ngā irakētanga ira ki te huringa i roto i te hanganga pūira ratou te nui ranei, ko te take o disorders nui me mate i roto i te tamaiti. e kore e mahu ēnei mate.

Ngā momo o irakētanga pūira

e rua anake ngā momo o ngā irakētanga pūira nui rerekē: tau, me te hanganga. Aneuploidy - Ko te maha o ngā momo o pūira, e ko, ka e pā ana ngā irakētanga ira ki te huringa i roto i te maha o ngā pūira. Ko reira te putanga o atu me te ake o te muri, te mate o tetahi o ratou.

irakētanga ira e pā ana ki ngā huringa i roto i te hanganga i roto i te take i reira te whati pūira, a muri sinó, whawhati te whirihoranga noa.

Ngā momo o pūira tau

Na roto i te maha o irakētanga i runga i te pūira aneuploidy hea, momo arā. Whakaaroa te matua, kitea i roto i te rerekētanga.

• tātoru

Tātoru - Ko te putanga i roto i te karyotype o te pūira anō. Ko te āhuatanga tino noa - ko te putanga o te pūira e rua tekau-tuatahi. riro te reira i te take o raro syndrome, ranei, rite karanga ratou i te reira mate - tātoru o te pūira e rua tekau-tuatahi.

kitea Patau Syndrome e te tekau ma toru, me te tekau ma waru i runga i te pūira pāngia syndrome Edwards. Ko te tātoru autosomal katoa. e kore e taea Ētahi trisomies, mate ratou i roto i te kopu, a te ngaro, ka te materoto noa. Ko te hunga mau taata e whai pūira atu sex (X, Y), - ukauka. Ko te tino iti te faaiteraa haumanu o taua irakētanga.

irakētanga ira e pā ana ki ngā rerekētanga i roto i ngā tau puta hoki ngā take motuhake. Tātoru tino pea ki te puta, ka te hahiraa o te pūira huirua i roto i anaphase (whāiti pūira 1). Ko te hua o tenei hahiraa ko e hinga pūira e rua anake i roto i tetahi o nga pūtau tamahine e rua, a he kau te tuarua.

Iti nuitia, kia waiho ai disjunction-kore o pūira. huaina ana tēnei āhuatanga ko te takahi o te rerekētanga i waenganui i tuahine chromatids. puta te reira i roto i te whāiti pūira 2. Ko te take tenei ka noho rua pūira ōrite i roto i te kotahi gamete, meinga kākano trisomic. Puta Nondisjunction i roto i te tīmatanga o te tukanga hua kuru kua e kua wairakau. Ko te kupu, he ki tou pūtau mutant e taea hipokina te wahi nui iti ranei o te kiko. I te tahi taime faaite te reira iho hauora.

E rave rahi o te pūira e rua tekau-tuatahi e pā ana te ki te tau o te wahine hapu, ko tenei take tae noa ki tenei ra e kore taunakitanga mārama. Ngā take mō te kore te mahuetanga pūira, noho unknown.

• monosomy

ka karanga Monosomy te kore o tetahi o nga autosomes. Ki te tupu tenei, ka i roto i nuinga o te wā e kore e taea ki te whai hua, whakatupuranga taimi halá, puta i roto i te tīmatanga o te wāhanga. Okotahi - monosomy tika ki te pūira rua tekau-tuatahi. Ko te take e reira he kia meinga he monosomy disjunction kore-o pūira, me te mate o ngā pūira i roto i anaphase tona ara i roto i ki te whare herehere.

Na roto i te monosomy pūira sex hua i roto i te kukune i ai te karyotype XO. faaiteraa haumanu o te karyotype - Turner syndrome. E waru tekau ōrau o te take i roto i o te monosomy rau ahua o te pūira X he tika ki te takahi o te whāiti pūira pēpi Teti. he tika ki te nondisjunction X me pūira Y tenei. Fele, te hua o te karyotype XO e patua i roto i te kopu.

E ai ki te tātoru ngā pūira sex e wehea ki ngā momo e toru: 47 XXY, XXX 47, 47 XYY. syndrome o Klinefelter ko tātoru 47 XXY. Ki te taua tupono karyotype ki mau wehea te tamaiti e rima tekau-rima tekau. Ko te take o tenei syndrome e taea e te nondisjunction o te pūira X, X ranei ko Y nondisjunction spermatogenesis. Ka taea e anake nga karyotypes tuarua, me te tuatoru puta i roto i tetahi o nga mano o nga wahine hapu, ratou i whakaritea e kore e tupu i roto i te nuinga o te wā, i kitea tohunga rawa i te aituā.

• polyploidy

Tenei irakētanga ira e pā ana ki ngā huringa i roto i te huinga haploid o pūira. Ka taea te tata'i toru me te whā ēnei kete. Kua tino nuitia pāngia Triploids anake ka reira ko te materoto noa. He kua maha ngā take i reira te whakahaere te whaea ki te hanga i te pēpi taua, engari i mate ratou i te katoa i mua i te taenga o te tau, me te marama. triplodii meinga pūhanga o ngā irakētanga ira i roto i te take, me te oti purara o nondisjunction o huinga pūira rānei pūtau iroriki wahine toa ranei. Hoki, kia mahi i te huarahi he kikiritanga rua o te hua manu. I roto i tenei take, i reira he tupu o te ewe. huaina ana tēnei fanauraa te hapūtanga niho kauoro. Tikanga, enei huringa arahi ki te whanaketanga o hinengaro, me te whaiaroaro disorders, materoto o pēpi.

E pā ana nei ngā irakētanga ira ki te huringa i roto i te hanganga pūira

Ko te huringa hanganga ko te putanga o te whati pūira (whati) pūira. Ka rite ki te hua o enei pūira e hono, whawhati tona ahua o mua. kia porangi, me te whārite ēnei akatuke'anga. i tautika kahore toenga kaimahi ranei o te rauemi, Heoi kahore e whakaaturia. Ka taea e ratou puta noa i roto i te hunga wā i reira i runga i-pae ko te whakangaromanga o te pūira te ira e te mea functionally nui. I roto i te huinga whārite o tohuhema kia puta porangi. I roto i te putanga o tenei kikiritanga gamete taea meinga te ahua o te kukune ki te huinga pūira porangi. Ki tenei huinga whakaara ake te kukune te maha o malformations puta pathologies kino.

Ngā momo o akatuke'anga hanganga

irakētanga ira puta i te taumata o te gamete hanganga. Kia kore ai tenei tukanga kore e taea e, e kore e kore e taea e tino mohio e taua irakētanga kia puta. whakarerekētanga Structural i te maha o ngā momo.

• mukunga

Tenei huringa Ko e tika ana ki te mate o te wahi o te pūira. Kia riro i tēnei āputa pūira poto, ka ngaro tona wahi wehea i roto i te wehenga pūtau atu. mukunga interstitial - ko te take tenei ka pakaru tetahi pūira i roto i te maha o nga wahi. Ko te tikanga he ēnei pūira hua kukune nonviable. Ko reira he take te wahi i ora kuao, engari to ratou no te mea o tenei huinga o pūira ko Wolf-Hirschhorn syndrome, "tangi o ngeru."

• tāruarua

Ēnei irakētanga ira puta i te taumata o te whakahaere o te rua DNA. Fele e kore e taea e tāruarua e te take o te taua abnormalities e meinga mukunga.

• translocation

puta Translocation tika ki te whakawhiti o te rauemi ira i tetahi pūira ki tetahi. Ki te kahore he he whaturama i te maha ngā pūira me whakawhiti ratou wāhanga, riro te reira i te take o te retsiproktnoy translocation. E wha tekau-ono anake pūira te karyotype o tenei translocation. Ko te tino taua translocation anake whakakitea e te tātaritanga āmiki, me te ako o ngā pūira.

Huringa i roto i te raupapa nucleotide

E pā ana ngā irakētanga ira ki te huringa i roto i te raupapa nucleotide, ka whakahuatia i roto i te whakarerekētanga o te hanganga o ētahi wāhanga o te DNA. Na roto i te taua pānga irakētanga e wehea ki e rua ngā momo - kahore he neke anga me te neke. Hei mohio rite te mea ai te huringa o te DNA, he mea e tika ana ki te whakaaro ia momo motuhake.

Tāpare neke irakētanga, kahore

E pā ana ēnei irakētanga ira ki te huringa me te whakakapinga o takirua turanga i roto i te hanganga DNA. Ki te kore e ngaro taua monoraa i te roa DNA, engari e taea te ngaro me te whakakapinga o ngā waikawa amino. He ko he pea e tonu te hanganga o te pūmua te, ka mahi i te reira rite te hope'ao te ino o te waehere ira. A feruri i te kōrero o ngā kōwhiringa e rua: te whakakapinga, me kahore monoraa i waikawa amino.

Irakētanga e whakakapi waikawa amino

Whakakapi i te toenga waikawa amino i roto i te polypeptide huaina irakētanga missense. I roto i te rāpoi ngota pūtoto reira e wha mekameka tangata - e rua "me" (Kei te reira i roto i te pūira ono), me e rua "b" (Tapa i te tekau ma tahi i te pūira). Ki te "b" - he whānui tonu, me i reira ko te rau e wha tekau me te ono toenga waikawa amino i roto i tona hanganga, me te tuaono ko te glutamic, he noa te pūtoto. I roto i tenei take, ki te waikawa glutamic kia whakawaeheretia gaa triplet. Ki te whakakapia e tika ana ki irakētanga gaa GTA, hei utu o te waikawa glutamic i roto i te pūtoto rāpoi ngota valine i hanga. Ko te kupu, hei utu o te pūtoto noa puta HbA tetahi pūtoto HbS. Ko te kupu, ka meinga te whakauru o tetahi waikawa amino, me te nucleotide kotahi mate kino nui - anemia pūtau toronaihi.

whakakitea te mate e te meka e kua āhua pūtau toto whero rite te toronaihi. Ka rite ki taua, e kore e taea e ki te whakaora tika hāora ratou. Ki te i te taumata pūtau e iraruarite tātai HbS / HbS, arata'i te reira ki te mate o te tamaiti i roto i te kōhungahunga. Ki te te tātai HbA / HbS, te pūtau toto whero i te puka ngoikore o te huringa. Tenei huringa iti ko te kounga whai hua - ātete ki te malaria. I roto i aua whenua te wahi i reira ko te mōrea o te kirimana te malaria ko te taua rite i roto i te matao o Siberia, tenei huringa he kounga whai hua.

Irakētanga o waikawa amino kahore whakakapinga

monoraa i nucleotide, kahore utu o waikawa amino i huaina seymsens irakētanga. Ki te te rohe DNA whakawaehere te "b" - ka whakakapi ara iahiko i te gaa purua, ka tika ki te meka e te waehere iranga ka i roto i te taikaha, whakakapinga waikawa glutamic taea kore puta. e kore e puta ke hanganga mekameka, e kore e nga erythrocytes hei akatuke'anga.

irakētanga Frameshift

E pā ana ēnei irakētanga ira ki te huringa i roto i te roa o te DNA. kia iti nui ranei te roa, i runga i te mate tua o te nucleotide takirua ranei rānei. Ko te kupu, puta ke hanganga tino katoa o te pūmua te.

Ka taea e puta whakaīngoatia intragenic. Puta ana tēnei āhuatanga, ka reira te mea he wahi e rua irakētanga e utu tahi i te tahi. Ko te wa o hono nucleotide takirua i muri i tetahi, kua ngaro, a hurihia tenei.

irakētanga tito noa

Ko te rōpū motuhake o irakētanga tenei. He onge te reira i, i roto i tona take, i reira ko te ahua o codons mutu. Tenei e taea tupu e rua i roto i te mate o takirua turanga, a i roto i to ratou rironga. A, no te reira he codons mutu, mutu te kōtuitui polypeptides tino. Ko te kupu e taea te hanga i te irarā korenga. E kore e ōrite te reira i tetahi tetahi o nga pūmua.

He he he mea pēnei i pehanga intergenic. Ko te āhuatanga i reira te irakētanga o tetahi ira Kōpeke te irakētanga i roto i te tahi atu tenei.

ahakoa e kitea huringa i roto i te hapū?

Ka taea te whakaritea ngā irakētanga ira e pā ana ki ngā huringa i roto i te maha o ngā pūira i roto i nuinga o te wā. Hei kitea i roto i ranei te hē whanau i roto i te whanaketanga me te māuiuitanga, i roto i nga wiki wawe o te hapūtanga (i tekau ki te kotahi tekau ma toru wiki) āta whakaritea. Ko te raupapa o ngā rangahau ohie tenei: he taiepa i runga i tauira toto i te ringa, me te rua ultrasound. I te ultrasound fetal tukinotia i roto i runga i te tawhā o pito katoa, ihu me te upoko. Ko ēnei tawhā i roto i te kaha ngā hanganga ture kāore-tohu e he kohakore, i roto i te whanaketanga i te tamaiti. Hei whakaū i whakakahore ranei te tātaritanga i runga i nga hua o te whakamātautau toto.

Hoki, i raro i te tirotiro tata o rata he whaea heke mai, ngā pēpi nei kia whai i te irakētanga i te taumata ira, riro te. E ko, aua wahine, teina o nei nga take o te tamaiti ki te hauātanga hinengaro tinana ranei, tāutuhia raro syndrome, Patau me ētahi atu mate ira.