Translocations Robertsonian: whakaahuatanga, ngā āhuatanga me ngā āhuatanga o

Ko te rōrahi katoa o te rauemi ira whakaurua i roto i te katoa 46 o pūira takirua. mohiotia te pūira te i koiora, kitea i roto i te karihi pūtau. He tangata hauora he karyotype o 23 o ngā pūira diploid takirua. Ko 46 XX - pūira whakaturia wahine me te 46 XY - huinga tane o pūira. A, no te whatiia koe i tetahi o te pūira, te taketake "kaimau" o te waehere ira, ngā momo o maumaui puta.

e kore e ahurei ki te tangata irakētanga. whai wāhi huringa iti i roto i te rauemi ira ki te kanorau o faaiteraa o te natura. I roto i te huringa pūira translocation taurite pera-ka karanga puta kahore te mate o te mōhiohio me te kahore tāruarua faufaa. Nuinga o ngā wā tupu tenei i roto i te whāiti pūira (wehenga pūira), i roto i te tua, i ētahi wā wahi o nga pūira e tārite (puta tāruarua), a ka he tārewa nga hopearaa. Engari ka whakaaro matou anake translocations Robertsonian, ratou āhuatanga me ngā pānga.

translocation Robertsonian - he aha te mea te reira? raruraru ira o te taata

Nā ki te whaturama o te pūira e tata ana te centromere reira he huringa hanganga i roto i te waehere ira tangata. kia waiho te āputa he kotahi, engari tupu te reira, a ano. ngaro Kotahi ringa o pūira i muri i te mea kiano i matao (te tikanga ringa poto) te. Ko tae mai puta noa te wā i reira puta te break wā kotahi i roto i te 2 pūira, poto ringa nei e I Whakawhiti. I te tahi taime, e ngohengohe ki te translocation wahi anake o te pokohiwi ratou. Otiia e kore taua ringa poto o pūira acrocentric i roto i te momo (te wahi ka tuwhaina e te centromere te pūira i te roa me te poto i te ringa) kawe mōhiohio faufaa. Haunga te mate o taua āhuatanga e kore e mea faufaa no te mea te tārua te rauemi tuku ki te tahi atu ngā pūira acrocentric.

Otira ka wehea te ringa poto tauta ki ringa poto o tetahi ira, a ka kua soldered hoki te roa e toe ki tetahi ki tetahi, he kore he translocation taua tautika. Taua "whakatikatika" o rauemi ira - ko te translocation Robertsonian tenei.

rangahaua ahau a whakaahuatia tenei momo o te translocation W. Robertson i 1916. A huaina tona ingoa ko me te Pākatokato. Ka taea e translocation Robertsonian arahi ki te whanaketanga o mate pukupuku, engari e kore e kia pā i te ahua me te hauora o te kawe. Heoi, ko te tamaiti i roto i te nuinga o te wā, ki te he te translocation kotahi matua, whanau ki te hauā.

irakētanga pehea noa?

Nā ki ngā whakapaitanga i roto i te hangarau me te whanaketanga o te iranga rite te pūtaiao, i tenei ra he reira taea ki te mohio i roto i mua, ki te reira e abnormalities i te karyotype o te tamaiti e parauhia te. Ko reira inaianei taea ki te kawe i nga tatauranga: pehea maha i reira e Pākatokato ira? E ai ki te raraunga o nāianei, translocations Robertsonian puta i roto i tetahi i roto i o te mano hou. Nuinga o ngā wā pāngia translocation o pūira 21.

Ko tino translocation pūira iti kahore riri ki tona kaimau. Otira ka pānga reira āhuatanga nui o te waehere, kia whanau te tamaiti kia mate mate i roto i te marama torutoru, pērā i, mo te tauira ranei, te take ki te Patau syndrome. Ko puta Patau syndrome rawa uaua. Wahi 1 i roto i te 15,000 whakatupuranga.

Ngā āhua e hāpai ki te putanga o te translocation i roto i pūira

I roto i te natura, i reira he irakētanga noa, arā, tukikore. Ko hanga te taiao ona ake whakatikatika ki te whanaketanga o te huinga ira. whai wāhi maha ngā āhuatanga ki huringa mutational atu auau. E huaina ēnei āhuatanga mutagenic. Mohiotia e te āhuatanga e whai ake nei:

• pānga turanga nitrogenous;
• biopolymers DNA ke;
• whaea waipiro te horomanga i roto i te hapū;
• te pānga o wheori i roto i hapūtanga.

puta te translocation tino noa e tika ana ki te pānga kino o te radiation i runga i te tinana. Pānga ki katinga radiation, iraoho me X-hihi, me hihi kama.

E E ngohengohe ana ki te huri i pūira?

Waha translocation o te pūira 13, 14, 15 me te 21. Ko te translocation tino rongonui, me te kino - he translocation Robertsonian i waenganui i ngā pūira 14 me 21.

Ki te rite ki te hua o ngā puka whāiti pūira pūira anō (tātoru) fetal ki taua translocation, ka e whanau te tamaiti ki a Down syndrome. He taea te taua take, ki te mea kua puta Robertsonian translocation i waenganui i ngā pūira 15 me 21.

Translocation o pūira ropu D

pānga Robertsonian translocation pūira Group D pūira acrocentric anake. Chromosomes 13 me 14 e whai wāhi i roto i translocations i 74% o te wā, a kua karangatia e ratou translocations tahatahi, e he maha hopearaa kino e kore hoki te ora e.

Heoi, i reira he kotahi tūkunga e kia haere tahi taua kōhikohiko. translocation Robertsonian 13, 14 i roto i nga tangata e taea te arahi ki te hua waimaero o te kawe toa (45 xy pūira huinga). Nā ki te meka e, e tika ana ki te mate o utu o 2 o pūira takirua e rua ringa poto maha i reira he kotahi e kua rua te roa, tohuhema te tangata penei e kore e taea te hoatu e te uri taea anake.

Ko te taua translocation Robertsonian 13, 14 i roto i nga wahine, me te whakaiti i tona kaha ki te whai i te tamaiti. Ia marama e taua wahine ki reira, a ano i reira nga wa ka i hoatu e ratou whanau ki ngā tamariki hauora. Ko whakaatu tonu nga tatauranga e ko te reira onge. Fele, e kore e taea a ratou tamariki.

Ko te mau hopearaa o translocations

Kua kitea e matou e te tahi mau o nga huringa hanganga e tino noa, me te kore e whakawehi. whakaritea wae translocation Robertsonian te anake e te tātari. Ko te re-translocation i te huinga o te whakatupuranga i muri o pūira kua kino.

translocation Robertsonian 15 me 21 i roto i te taha ki te tahi atu huringa hanganga ai ara kia kino. nga hopearaa katoa o etahi huringa hanganga i roto i te karyotype whakaahuatia i roto i te taipitopito atu. A haamana'o na e te karyotype - he reira tūturu i roto i te huinga takitahi o pūira i roto i te karihi.

Tātoru me translocation

translocations Genetics I tua atu taratahi pīari pērā i te pūira tātoru. tikanga tātoru e kua whakaturia karyotype fetal tetahi o pūira triploid hei utu o te 2 ngā tārua ētahi wā puta tātoru mosaic. Ko triploid huinga o kitea e kore i roto i ngā pūtau katoa o te tinana.

Tātoru ngā ki translocation Robertsonian arata'i ki nunu'a rawa mamafa: pērā i Patau syndrome, Edwards me te ake noa syndrome Down. I roto i ētahi wā, te huinga o kōhikohiko arata'i ki tahe i roto i te tīmatanga o te wāhanga.

syndrome o Raro. faaiteraa

Me kï reira e te translocation whai wāhi ngā pūira 21 me 22 e atu pūmau. e kore e taua kōhikohiko mate, he kore hawhe-whakamate, engari arahi noa ki hauātanga whanaketanga. Ko te kupu, tātoru 21 i roto i ngā ki te translocation Robertsonian i roto i te karyotype i te tātari o te karyotype fetal - he "tohu" tino o raro syndrome, he mate iranga.

āhuatanga syndrome o Raro e rua hauātanga tinana, me te hinengaro. He pai matapae o te ora o enei iwi. Ahakoa mate ngakau me etahi huringa te whaiaroaro i roto i te kōhiwi, ka kei te mahi tikanga ratou tinana.

Ko te āhuatanga āhuatanga o te syndrome:

• mata flat;
• arero rahi;
• he rota o te kiri i runga i te kaki, haere ana ki te korukoru;
• clinodactyly (curvature o te maihao);
• epicanthus;
• Ko taea mate ngakau i roto i 40% o te wā.

People ki tenei syndrome āta tīmata ki te haere, ki te mea i te kupu. Na hoki ki te ako atu uaua reira atu te tahi atu tamariki a te taua tau.

Otiia he nehenehe o te mahi hua i roto i te hapori, me te ki etahi tautoko me te mahi tika ki enei tamariki e pai socialized ratou i roto i te heke mai ratou.

syndrome Patau

Ko iti noa atu Down syndrome te syndrome, engari nga mea kohakore o ngā momo i te tamaiti taua rawa nui. Tata 80% o ngā tamariki ki tenei tātaritanga mate i roto i te 1 tau o tau.

I te tau 1960 ako ia tenei Pākatokato ka kitea nga take ira o te kore Klaus Patau, ahakoa ki a ia i roto i 1657 whakaahuatia te syndrome T. Bartolini. nui haere te mōrea o enei disorders e i roto i nga wahine e hoatu whanau ki te tamaiti i muri i te 31 tau.

Ko ēnei tamariki maha hē tinana ngā ki te whanaketanga whakamātau tinana nui. Āhuatanga o te syndrome:

• microcephaly;
• ringa rerekē, maha i hanga anō matimati;
• huinga iti taringa āhua kōhikohiko;
• ngutu ngatata;
• kaki poto;
• kanohi kuiti;
• mārama "whakaukia" piriti;
• hē o nga whatukuhu, me te ngakau;
• ngutu ngatata ngao ranei;
• Pregnancy He kotahi anake iatuku pito.

He maha iti o ora tamariki nonohi āwhina hauora. A ka taea e tonu ratou e ora i te wa roa. Engari pā tonu kōhikohiko congenital te āhua o te ora, me tona nounou.

Edwards syndrome

Tātoru 18 pūira translocation i roto i te papamuri arata'i ki Edwards Syndrome. Kei te mohiotia iti pai tenei syndrome. Ki te te tātaritanga tenei he tamaiti e papaki ana ora ki te ono marama. e kore e ture tīpakonga tūturu tukua ki te tupu nui hauā maha.

I roto i te whānui, i te maha o hē rerekē i roto i te syndrome Edwards - e pā ana ki 150 he oko malformations toto reira, ngakau, whekau. Wā katoa reira i roto i enei tamariki hypoplasia o te roro tuarongo. He kōhikohiko o te hanganga o te maihao. puta Tino maha he taua Pākatokato motuhake rite te hira waewae.

He aha whakamātautau whakatau abnormalities i roto i te utero?

Hoki tātaritanga karyotype i roto i tika fetal ki te whiwhi rauemi - pūtau fetal.

He maha ngā tätari. Turama i pehea puta te reira.

1. chorionic villus tīpako. Ko te tātari i te 10 wiki. Enei Villi - ko nga ewe matūriki tika. Ko tēnei matūriki o te rauemi koiora e korero katoa e pā ana ki te heke mai o te hua.

2. Amniocentesis. Ki te ngira tangohia te i te torutoru pūtau fetal, me waikahu. E tangohia ana ratou te nuinga i te wiki 16 o hapūtanga, a i muri i te wiki ruarua, e taea te tiki i te tokorua te mōhiohio āmiki e pā ana ki te pai o te tamaiti.

I runga i tenei tātari e tonoa ki whaea ki mōrea o tuku he tamaiti ki nui haere hauātanga. Ko te tikanga tātari ira whakahaua aua takirua i roto i nei:

1) Ko mâtutuhia aita e;

2) e kore kua te rua i taea e ki te hapu i te tamaiti;

3) i roto i te whānau tae te āhua kōrero e pā ana tata.

kia whai ēnei iwi taitamariki he translocations Robertsonian o etahi pūira. A pera kia ratou i mua ki te hanga i te tātari i runga i te karyotype ki mohio he aha e te tūponotanga ki te kawe me te hoatu whanau ki te tamaiti hauora.