Aneuploidy - he ... Aneuploidy: whakaahuatanga, ai, tohu, me te ahua ngā o te maimoatanga

Aneuploidy - he mate iranga i roto i nei i roto i ngā pūtau o te tinana te maha rerekē o pūira. Ki te ako atu e pā ana ki te āhua o ki te whakaatu aneuploidy me aha e ona take, tātari poto te hanganga o te pūtau ora, te karihi pūtau me te pūira ratou.

He bit o ariā

Ka rite ki matau ana koutou, i roto i nga pūtau somatic o te tinana tangata e noa 46 pūira, e he diploid. Anake i roto i ngā pūtau iroriki, tenei huinga kotahi. Kei pūira i roto i te karihi pūtau me he roa, skompaktizovannuyu DNA helix. , I roto i te tahuri hanga DNA, kua ake o waetahi - polypeptides. whakatakoto ana raupapa polypeptide etahi ira - wae hanganga o te whakapapa. Kei DNA te hōtaka ira katoa o te whanaketanga o te rauropi.

I roto i ngā pūtau nonsexual ia pūira ko ngā pūira tuahine huirua rawa rite, engari e kore e ōrite ki te tuatahi. I roto i pūira whakawhiti nga pūira wāhanga. huaina ana tēnei āhuatanga ko "crossover." Ko te pūira taratahi roa, me te poto ringa.

huinga pūira

ka karanga whakaturia o pūira o te kaiao te he karyotype. Tikanga, he tangata, kua rite kua mea, aroaro te karyotype te 46 pūira, 23 i ia matua, engari i kitea he Pākatokato i i faahoho'ahia te karyotype te rerekē. huaina ana tēnei ofatiraa ko "aneuploidy".

Aneuploidy - he momo o te karyotype i roto i nei e kore e rite ki te noa te maha o ngā pūira. Aneuploidy o pūira, i roto i nei huaina kahore tetahi pūira te monosomy. Ki te kahore he mamaoa - nullisomiey. Ki te, hei utu o te rua noa o ngā pūira huirua i roto i te karyotype puta toru huirua, tenei tātoru. Tetahi huringa i roto i te maha o ngā pūira ai nui disorders whanaketanga. kia mate etahi o ratou.

Aneuploidy pūira nonsexual (autosomes)

He maha mate iranga e meinga reira aneuploidy. Tauira o taua mate - syndrome o Down, Patau syndrome, Edwards Syndrome. E meinga e te aroaro o te pūira anō i roto i rerekē takirua o huirua enei mate katoa. syndrome Raro - te noa tino o enei mate. faaite te reira ano te retardation hinengaro, hauā i roto i te kōrero, te mau fifi ako.

Heoi, tātoru o te pūira 21, e ai te mate, e kore pānga i runga i te ora ngā. Karaehe i runga i ngā rautaki motuhake e taea te āwhina tūroro whakatutuki etahi angitu i roto i te akoranga me te whakawhanaunga.

Ko tētahi atu mate, Patau syndrome, hoki ai aneuploidy. Tenei maumaui nui - te hua o tātoru o te pūira 13. Tūroro uaua ora ki te 10 tau, neke atu i te 80% mate i roto i te tuatahi o nga tau o te ora, mamae etahi i kino retardation hinengaro. I roto i te faaite tamariki ki Patau syndrome microcephaly, maha whai raruraru ngakau, puputu'u 'Corneal, ngao wahia, taringa ahua i hira ake.

Ko te take matua o te syndrome Edwards ko hoki aneuploidy - tātoru o pūira 18. Neke atu i te 90% o ngā tamariki ki tenei mate te mate i te kore te ngakau i roto i te tuatahi o nga tau o te ora, mamae etahi i kino retardation hinengaro, me te tata uneducable.

Ko atu noa atu i tetahi atu aneuploidy tātoru 16 pūira. Ko te whakamate tenei mate ira, mate te kukune i roto i te kopu i te toru marama tuatahi o te hapūtanga i roto i.

Aneuploidy i roto i te tangata kia faaite mai i te mate ira onge - Varkani syndrome, tātoru o pūira 8. Ko te tohu matua - retardation hinengaro, melé ngakau, kōhikohiko kōhiwi.

Aneuploidy o pūira sex

Kind o aneuploidy, e kore nei e arahi tonu ki ngaahi nunua mamafa - mō te tātoru X pūira. he maumau'i taua he anake hoki te wahine. Ko ngā auau tātoru X-pūira - i 0.1% o te wahine. E kore ai te mate faaite mai puta noa te ora, e puta i roto i pā ana ki te 30% o te wā. Hoki te āhuatanga te toe 70% moni e te tohu e whai ake nei: tīpaopao, agraphia, kupu, me disorders nekehanga. Tono i roto i ngā take pēnei i, maimoatanga symptomatic Ko te tino whai hua, me te āwhina ki te rawa wāhanga ranei te whakakore i enei tohu.

Ētahi atu kōhikohiko e pā ana ki te maha o ngā pūira sex, he tawhiti atu nui. Ko ētahi o ēnei Shereshevskoro syndrome - Turner, he take motuhake o te aneuploidy, i nei i roto i nga wahine karyotype - anake kotahi X pūira hei utu o te noa e rua. Tohu - retardation hinengaro, poto roa, te whanaketanga waimaero o te whekau taihemahema taea e he puka ngawari o te retardation hinengaro.

Tera atu ano tetahi mate nui, meinga nei e aneuploidy. Te reira i Klinefelter syndrome - te aroaro o tetahi ranei atu anō X Y ranei pūira i roto i nga tangata. e kore e Tohu puta noa te timatanga o te pūhuruhurutanga. Tata hawhe o tūroro e kore e whai tohumate puta noa to ratou oraraa, ētahi i kite gynecomastia, mōmona, te pākoko. I roto i te wā onge, i reira he retardation hinengaro.

Ko te take o te aneuploidy

puta Aneuploidy tika ki te meka e i roto i pūira kore e wahia te pūira huirua ake, a hei utu o tetahi i roto i te gamete patua he rua o pūira, ranei e kore kua kahore ka. Ki te he maha gamete noa o pūira, me te tahi atu - te rerekē, ka te whakatō kākano karyotype rerekē.

Ka taea e rorona ngā pūira huirua kia tika ki ngā āhuatanga taiao kino, te rongo ki tāoke o te natura rerekē. Otiia maha te take he whakapapa: i roto i te mau utuafare i reira i reira kua take o aneuploidy, he teitei ake i taua o te mau metua hauora te mōrea o he tamaiti ki te karyotype rerekē.

auau

Ka taea e tatou te mea e te mōrearea taketake o te pūira aneuploidy-mate i runga i toharite he iti, mai Whakaröpütia mate ira katoa rite onge. Ko te tūponotanga whānui o ia i te tamaiti ki te karyotype pīari rau 5% ki te he hauora mātua e rua. Ki te he tetahi karyotype rerekē, te tūponotanga o te piki whanautanga tamaiti mate kotahi matua.

Tei aneuploidies auau i runga i te pūira. Ko te karyotype tino noa pīari - syndrome o Klinefelter, pūira sex aneuploidy, auau o te 1 i roto i te 500 mau tamaroa hou, te tino onge - Varkani syndrome, aneuploidy o te pūira 8, te auau o 1:50 000.

maimoatanga

he symptomatic tonu maimoatanga aneuploidies. A, no te Shereshevscky syndrome - Turner ta tupu iti me te kore o hormones sex wahine, no te mea whakamahia te maimoatanga steroids anabolic.

heke maimoatanga syndrome o raro e ki rangahau ki te tūroro ki te hōtaka motuhake e hāngai ana te whanaketanga o ngā tautōhito.

Tūroro ki te syndrome Varkani varavara ora ake ki te 20 tau. Neke atu i te wa, huringa kikokiko hou, ahu whakamua retardation hinengaro. Ki te tika, ki te huihui ki te pokanga fakatonutonu te huru me te maimoatanga o te contractures tuaiwi.

Ki te kotiro ki tātoru X-pūira i reira ko te roa o te whanaketanga kupu, kia Me ki kōrero i te kaihaumanu kupu. I roto i te take o ngā raruraru ki te tuhituhi me te pānui, kia kite i te tīpaopao mātanga.

e kore e Klinefelter syndrome pā tonu te kounga o te ora mō ngā tūroro. I roto i te wā onge, i reira he retardation hinengaro. I runga anō i ona tohu (ngawari, āhua, nui), he hōtaka takitahi o te ako. Ki te gynecomastia kitea, heke mahi fakasekisualé, pākoko, ka haere ki te taiki therapy.

tātaringa

Te tautuhi taea fetal mate ira e te whakamahi i te whānuitanga o ngā tikanga (whakamātautau ultrasound, matüora tikanga tohu).

Ki te awhina o ultrasound taea whakakitea syndrome kukune o te Down i te wā wawe o te whanaketanga.

Non-urutomo tātaritanga prenatal o aneuploidy ko te tikanga haumaru, me te tika o te whakatau i nga abnormalities karyotype taea. He kuware te tikanga - tirohia te mātanga whatiwhatinga o te tamaiti DNA i roto i te toto o te whaea. he tika atu tātaritanga urutomo o aneuploidy, engari e waha ana te reira i te mōrea o te materoto noa, huihui ki reira anake i roto i te wā tino.

Āhuatanga e whakanui i te tūponotanga o te aneuploidy

Kua kï rangahau tata e reira ko te ine tino i waenganui i tau whaea me te tūponotanga o ia i te tamaiti ki a Down syndrome, syndrome syndrome o Patau Edwards ranei. Ko te tuakana te wahine, te teitei te tūponotanga o te whanautanga o tana tamaiti ki te karyotype rerekē.

He aha ngā āhuatanga tākaro he wāhi tino hira i roto i te whanaketanga o ngā pūira sex aneuploidy he unknown. Kei te riro te reira e te tūranga matua i roto i ngā take pēnei i no ki whakapapa.