Chinangwa uye Maitiro Anobatanidzwa MuKaryotype Test
Kana chiremba wako akakurudzira chirongwa chekaryotype kwauri kana mwana wako, kana mushure mekunge amniocentesis, ichi chiitiko chinosanganisirei? Ndezvipi zvingaita karyotype kuongororwa, matanho api anobatanidzwa pakuita miedzo, uye chii chiri kukwana?
Muedzo weKaryotype Chii?
Karyotype mifananidzo yemakromosomes mune imwe sero . Karyotypes inogona kutorwa kubva mumasero eropa, fetal skin cells (kubva kumamitiotic fluid kana placenta), kana marome masero masero.
Ndezvipi Zvimwe Zvingave Zvichiongororwa Nechiratidzo cheKaryotype?
Karyotypes inogona kushandiswa kuvhara uye kuratidza chromosomal kusina kunaka sezvakaita Down's syndrome, uye kune marudzi akasiyana-siyana ezvakaipa zvinogona kuonekwa.
Imwe yeiyi mitema umo kune mairi matatu emakoromomusi pane maviri. Kusiyana neizvi, monosomi inowanikwa kana kopi imwechete (panzvimbo yeviri) iripo. Mukuwedzera kune matambudziko uye monosomies kune chromosome kudhonza mune chikamu chekromosome chiriko, uye chromosome translocations, umo chikamu chechromosome chimwe chinosanganiswa kune imwe chromosome (uye zvakasiyana-siyana mumatenderedzwa akaenzana.)
Mienzaniso yematambudziko inosanganisira:
- Down syndrome (trisomy 21)
- Edward syndrome ( trisomy 18 )
- Patau syndrome (trisomy 13)
- Klinefelter's syndrome (XXY uye zvimwe zvakasiyana-siyana) - Klinefelter's syndrome inowanikwa mune 1 muvana vashanu vanoberekwa uye inoita ichiwedzera kuitika
- Triple X syndrome (XXX)
Muenzaniso wekutsvaga kunosanganisira:
- Turner syndrome (X0) kana kushaya mumiririri X - Zvinenge 15 kubva muzana zvekucheka pamuviri zvinokonzerwa neTterer syndrome, asi iyi trisomy inowanikwa munenge muna 1 muna 2000 mazvarwa ekuberekwa
Mienzaniso yechromosomal deletions inosanganisira:
- Cri-du-Chat syndrome (isina chromosome 5)
- Williams syndrome (isina chromosome 7)
Translocations - Kune mienzaniso mizhinji yekutumira kune dzimwe nyika kusanganisira translocation Down syndrome. Kuchinja kweRobertsonian kwakafanana, kuchiitika munenge 1 muvanhu 1000.
Mosaicism ndiyo mamiriro ayo mamwe masero mumuviri ane chromosomal asina kufanana apo vamwe vasingaiti. Somuenzaniso, mosaic Down syndrome kana mosaic trisomy 9. Trisomy yakakwana 9 haina kufanana nehupenyu, asi trisomy ya mosai 9 inogona kuita kuti kuberekwa kuripo.
(Muenzaniso unobatsira mazwi ane chiuru. Dzidza nezve kusiyana kwakaita translocation, trisomy, uye mosaic Down syndrome .)
Karyotype Rakaita Sei?
Kune dzakawanda mamiriro ezvinhu umo karyotype inogona kukurudzirwa nachiremba wako. Izvi zvinogona kusanganisira:
- Vana vacheche kana vana vane zvirwere zvinoratidzira chromosomal kusina kuwanikwa izvo zvisati zvamboonekwa.
- Vakuru vane zviratidzo zvinoratidza kufungidzira kwechromosomal (somuenzaniso, varume vane chirwere cheKlinefelter vanogona kuenda vasina kuwanikwa kusvikira pakupera kana kuti munhu mukuru.) Zvimwe zvematambudziko e-trisomy e-mosaic zvinogonawo kuenda kune vasina kudzidza.
- Kusakosha - A genetic karyotype inogona kuitwa nekuda kwekushaya. Sezvakataurwa pamusoro apa, mamwe maitiro echromosomal angangodaro asina kuwanikwa kusvikira ava munhu mukuru. Mukadzi ane Turner syndrome kana murume ane zvimwe zvakasiyana-siyana zveKlinefelter angave asingazivi nezvechiitiko kusvikira vari kurwisana nekushaya vana.
- Kuongororwa kwepabonde - Mune zvimwe zviitiko, zvakadai sekuendesa kuendesa Down syndrome, mamiriro acho angave ari nhaka uye vabereki vanogona kuongororwa kana mwana akaberekwa ane Down syndrome. (Zvakakosha kucherechedza kuti nguva yakawanda Down syndrome haisi dambudziko rekuzvarwa asi asi pane mukana wokuchinja.)
- Kuberekwa - Karyotype inowanzoitwa sechikamu chekuedzwa pashure pekuberekwa.
- Kudzokorora kwakashata - Karyotype yevabereki yezvekucheka kwepamusoro kwepamusoro inogona kupa mazano pamusoro pezvikonzero zvekurasikirwa kunoparadza kwakanyanya. Zvinofungidzirwa kuti chromosomal zvisiri izvo, zvakadai se trisomy 16 ndiyo inokonzera kuti zvishoma makumi mashanu kubva muzana yezvipfeko zvisizvo.
- Chirwere chemukoko - Karyotype kuedza kunogona kuitwawo kuti ubatsire kutsvaga leukemias, somuenzaniso, nokutsvaga chrisosome yePhiladelphia inowanikwa kune vamwe vanhu vane chirwere chinogara chine myelogenous leukemia kana kuti acute lymphocytic leukemia.
Maitiro Anobatanidzwa MuKaryotype Muedzo
Chiyero cheKaryotype chinogona kumira sechirwere chekutsvaga ropa, izvo zvinoita kuti vanhu vakawanda vashamise kuti chii chinotora nguva yakareba kuti zviwane migumisiro. Iyi miedzo inonyanya kuoma pashure pekuunganidza. Ngatitarise matanho aya kuitira kuti iwe unzwisise zviri kuitika panguva iyo iwe wakamirira kuedza.
1. Muenzaniso Wokuunganidza
Nhanho yekutanga pakuita karyotype ndeyokuunganidza samuenzaniso. Mumakaberekwa, sampu yeropa ine masero matsvuku eropa, masero eropa, serum, nezvimwewo mvura inosanganiswa. Karyotype ichaitwa pamasero matsvuku eropa ayo ari kugovera zvakasimba (imwe nyika inonzi mitosis). Panguva yekuzvitakura, sampu inogona kuva amniotic fluid inounganidzwa panguva ye amniocentesis kana chidimbu chepentecenta inounganidzwa panguva ye chorionic villi sampling test (CVS). I amniotic fluid ine fetal skin cells iyo inoshandiswa kugadzira karyotype.
2. Kutakura Kuenda Kuraibhurari
Karyotypes inowanikwa mune rimwe laboratori inonzi cytogenetics lab-lab iro rinodzidza chromosomes. Kwete zvipatara zvose zvine cytogenetics labs. Kana chipatara chako kana chipatara chisina kayo yektogenetics laboratory, muedzo wekuedzwa uchaendeswa kubasa rinonyanya kuongorora karyotype. Muedzo wokuenzanisa unongororwa neiyo yakagadziridzwa cytogenetic technologygists, Ph.D. cytogeneticists, kana chiremba geneticists.
3. Kuparadzanisa Masero
Kuti uongorore makromosomes, muenzaniso unofanirwa kuva nemasero ari kuparadzanisa zvakasimba. Mune ropa, masero machena eropa anoparadzanisa. Mazhinji masero e fetus anoparadzanisa pamwe chete. Kana imwe samuyo yasvika kune cytogenetics lab, masero asina kupatsanurwa akaparadzaniswa kubva kumasero akaparadzanisa achishandisa makemikari anokosha.
4. Kukura Masero
Kuti ave nemasero akakwana kuti aongorore, masero ekuparadzanisa anokura mumasikirwo anokosha kana sero tsika. Izvi zvinosanganisira makemikari uye mahomoni anopa masero kuti aparadzise uye awedzere. Izvi zvinogona kutora mazuva matatu kusvika mana nokuda kwemasero eropa, uye kusvika kwevhiki ye fetal cells.
5. Kubvumirana nematare
Chromosomes ndeyendarira yakareba yeDNA yevanhu. Kuti uone ma kromosomes pasi pe microscope, chromosomes inofanirwa kunge iri mumakumbo avo akaoma mukati mechitsauko chema cell division (mitosis) inozivikanwa semetaphase. Kuti uwane masero ose kune imwe nzvimbo yakasanganiswa, masero anorapwa nekemikari inomisa masero ekuparadzanisa panzvimbo apo ma chromosomes ndiwo akanyanya kuwirirana.
6. Kusunungura Chromosomes Kubva Mumatare Ezvo
Kuti uone idzi makromosomes akakomberedzwa pasi pe microscope, ma chromosomes anofanira kunge ari kunze kwemasero machena eropa. Izvi zvinoitwa nekurapa masero eropa rega ane sarudzo inokosha inoita kuti vaparare. Izvi zvinoitwa apo masero ari pane zvinyorwa zvishoma. Zvasara zvakasvibiswa kubva kumasero machena eropa zvinoshambidzwa, zvichisiya ma chromosomes akabatanidzwa kune slide.
7. Kuchengetedza Chromosomes
Chromosomes ndeyezvipfeko zvisingaverengeki. Kuti uudze imwe chromosome kubva kune imwe, dhayi inokosha inonzi Giemsa dye inoshandiswa kune slide. Giemsa dye inotora nzvimbo dzekromosomes dzakapfuma muzvidzidzo adenine (A) uye thymine (T). Kana yakasvibiswa, ma chromosomes anotarisa semakumbo ane mazhenje uye masikati. Chromosome imwe neimwe ine maitiro chaiwo emasimbi akajeka uye erima anoita kuti cytogeneticist iudze imwe chromosome kubva kune imwe. Zuva rimwe nerimwe rima kana rima rakavhara mazana emarudzi akasiyana siyana.
8. Kuongorora
Kamwe kromosomes yakasvibiswa, slide inoiswa pasi pe microscope yekuongorora. Mufananidzo unobva watorwa wekromosomes. Pakuguma kwekuongororwa, nhamba yose yekromosomes ichagadziriswa uye ma chromosomes akarongedzwa nehukuru.
9. Kuverenga Chromosomes
Nhanho yekutanga yekuongorora ndeyokuverenga ma chromosomes. Vanhu vazhinji vane chromosomes 46. Vanhu vane Down syndrome vane 47 chromosomes. Zvinogona zvakare kuti vanhu vasave nekushaikwa kwekromosomes, kupfuura imwe yechromosome yakawedzerwa, kana chikamu chekromosome iyo inenge isipo kana inonyorwa. Nokutsvaga nhamba yekromosomes chete, zvinokwanisika kuongorora mamiriro akasiyana-siyana anosanganisira Down syndrome.
10. Kuronga Chromosomes
Pashure pokusarudza nhamba yekromosomes, cytogeneticist inotanga kusarudza ma chromosomes. Kugadzirisa ma chromosomes, cytogeneticist ichafananidza urefu hwekromosome, kuiswa kwe centromeres (nzvimbo iyo ma chromatids maviri akabatanidzwa), uye nzvimbo uye hukuru hweG-band. Iyo ma chromosomes maviri akaverengwa kubva kuhukuru (nhamba 1) kusvika kuduku (nhamba 22). Pane makumi maviri nemaviri emakromosomes, anonzi autosomes, anowirirana chaizvo. Kunewo ma chromosomes zvepabonde, vakadzi vane ma X chromosomes apo varume vane X uye Y.
11. Kutarisa Maitiro
Mukuwedzera pane kutarisa nhamba yese yekromosomes uye chromosomes zvepabonde, cytogeneticist inotarisawo maitiro eema chromosomes kuti ave nechokwadi chekuti hapana chekushayikwa kana zvimwe zvinowanikwa pamwe chete nehutachiona husina kunaka sezvinoitwa kutengesa. Kushandurwa kunoitika apo chikamu chechromosome chimwe chinowanikwa kune imwe chromosome. Mune zvimwe zviitiko, majekiseni maviri emakromosomes anoshandiswa (kutenderedzana kwemukati) uye dzimwe nguva chikamu chinowedzera chinowanikwa kana chinoshaikwa kubva kune imwe chromosome chete.
12. Mhinduro yekupedzisira
Pakupedzisira, karyotype yekupedzisira inoratidza nhamba yose yekromosomes, zvepabonde, uye chero upi zvawo huri nani hwema chromosomes. Mifananidzo ye digital yema chromosomes inoumbwa nemakromosomes ose akarongwa nenhamba.
Zvikamu zveKaryotype Kuedzwa
Zvakakosha kucherechedza kuti kana kuedza karyotype kunogona kupa ruzivo rwakanyanya pama chromosomes, iyi miedzo haigoni kukuudza kana zvizere zvegenji, zvakadai sezvo zvinokonzera cystic fibrosis , zviripo. Majini ako anokwanisa kukubatsira kuti unzwisise zvose izvo karyotype miedzo inogona kukuudza iwe uye zvisingakwanisi. Zvimwe zvidzidzo zvinodiwa kuti uongorore basa rinogona kuitwa rekuchinja kwemajini mune zvirwere kana kusakanganiswa.
Zvakakoshawo kuziva kuti pane dzimwe nguva kuongorora karyotype kunogona kusakwanisa kuona mamwe maitiro echromosomal, zvakadai sepasicental mosaicism iripo.
Ramangwana
Penguva ino, kuongorora karyotype mumatambudziko ekuberekwa kunowanzovhiringidza, zvinoda amniocentesis kana chorionic villus sampling. Zvidzidzo zviri kuenderera mberi kuongorora DNA isina-sina muropa reamai inosarura seimwe nzira isingasviki inopesana yekusarudzwa kwepabonde kusati kwaitika mumucheche.
Pasi Pasi Pakumirira Karyotype Yako Zvawanikwa
Paunenge wakamirira zviitiko zvako zvekaryotype iwe unogona kunge uchinetseka zvikuru, uye vhiki kana maviri zvinotora kuti zviwanike zvinogona kunzwa seanons. Tora nguva iyoyo kuzorora pane shamwari dzako nemhuri. Kudzidza nezvemamwe emamiriro ezvinhu anokonzerwa nemakromosomes asina kukodzera anogonawo kubatsira. Kunyange zvazvo zvakawanda zvezviitiko zvinowanikwa nekaryotype zvinogona kuparadza, pane vanhu vakawanda vanogara nemamiriro ezvinhu aya vane unhu hukuru hwehupenyu.
> Sources
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- > Norton, M., naB. Rink. Kushandura Zviratidzo zveKuedza Kunobatsira MuEra Yokuvandudzwa Kuongorora. Seminari muPerinatology . 2016. 40 (1): 56-66.
- > Shah, M., Cinnioglu, C., Butenbacher, M., Comstock, I., Kort, J., naR. Lathi. Kuenzaniswa kweCytogenetics uye Molecular Karyotyping yeChromosomes Kuedzwa kwekudzingwa kweMakadhi. Kubereka uye Kusimba . 2017. 107 (4): 1028-1033.