Kuongorora mazita ekutevedza kunogona kukuudza nezvemajeni ako uye nhoroondo yemhuri yako
Muviri wako unoumbwa nemamiriyoni ane masero. Muchikamu chimwe nechimwe chemasero aya chigadziro chinonzi nucleus, iyo inobata makumi maviri nemaviri emakromosomes anotakura mazwi ako ekuberekwa. Chromosome imwe neimwe inoumbwa nesimbi yakakura-yakafanana yakagadzirirwa DNA, iyo yakaumbwa nemakemikari anonzi deoxyribonucleic acid (DNA).
Hafu yekromosomes yako yakagara nhaka kubva kuna amai vako uye imwe hafu yakagara nhaka kubva kuna baba vako, ichipa ma kopi maviri emagetsi.
Vanhu vane mamiriyoni makumi mapfumbamwe nemazana mashanu emagetsi. DNA yako ndeyezvikamu zviviri zvezviviri zvejeni.
Majini enyu anotakura mashoko pamusoro pezvinoita kuti iwe, iwe. Zvose zviri zviviri zvinowedzera kuti zvive nekubatana kwakasiyana, seyimboti, iyo inoudza muviri wako kana iwe uchava nehvudzi, ruvara rwemuorivhi, kana kuti amainini amainini ekuputika maziso ebhuruu. DNA yako inotaurirawo masero ako maitiro ekuzvibata, kukura, uye nguva yekufa.
Funga nezveDNA yako sokunge yaiva makera. Matanho acho anoumba nucleotide bases. Kurongeka kwezvigadziro kwakafanana netsamba dzefabheti. Tsamba idzi, zvakare, dzakarongedzwa nenzira dzinotsanangura "mazwi." Aya mazwi anonyorwa zvakare (akanyorwa) uye anoshandurwa (kududzirwa) kuva mapuroteni (enzymes) anotungamirira zvinhu zvose mumuviri wedu. Kana geni rakatendeuka, iwe unogona kufunga pamusoro payo sekusanganiswa kwemashoko eefabheti. Izwi rinouya risina kururama uye mutongo wose hauna kururama. Kana iyo geni kana nzvimbo yeDNA ichiita basa rinokosha, zvinetso zvinoguma.
Kana iyo inoshandisa mapuroteni anodzora masero ekuparadzanisa, kenza inogona kuitika. Dzimwe nguva DNA yakawandisa, yakafanana nemakiti matatu echromosome pane maviri, inogona kutungamirira kumararamiro akaita seArt syndrome.
Kuwana DNA Yako Yakaedzwa
Paunenge uine DNA yako yakaongororwa, DNA yako inobudiswa uye inoverengwa. Sezvo sero rimwe nerimwe rine dhamita reDNA mune imwe neimwe yesero (iyo DNA yakanyatsogadziriswa kuti iite chromosome, kuitira kuti inopindira mukati memukati), sero rimwe nerimwe rinogona kubata zvakawanda zvemashoko ezvepabonde zvakasiyana zvachose kubva kune ani zvake zvimwe.
Chimwe chete chakasiyana nemapatya, anogovana DNA yakafanana.
Kuti uite kuongororwa kweDNA, iwe uchada kutora sampuli yemasero ako. Ichi chiyeuchidzo chinogona kuva cheropa rako, salivha, masero eganda kana kunyange mukati mematama ako. Kana iwe uine kenza, DNA yako inotorwa kubva mumuenzaniso wechirwere chako. Kazhinji, DNA test samples inotorwa nachiremba kana kliniki uye yakatumirwa kune rimwe ruzivo rwema genetic test apo DNA yako inoparadzaniswa nemasero ako.
Kuti kuve nekuongororwa kweropa, nete nesirineni zvinodiwa kutora muenzaniso weropa. Kuti upe saliva muenzaniso, iwe unopfira mu tube. Nokuti cheek swab, kuvhara mukati mematama ako nehombodo swab yakakura inofanira kuita basa racho.
Zvinotora vhiki kana kupfuura zvezvibereko zvingadzoka kubva kubasa, sezvo zvinotora lab technicians nguva kuti vasiye uye verenga mazita ekugadzirisa maitiro eDNA strand.
Kuongororwa kwezvirwere zveGenetic
Kana chiremba wako achikufungira iwe kana kuti mwana wako ane chirwere chema genetic, ivo vachaita zvimwe zviedzo kuti vaongorore dambudziko. Masayendisiti anogona kutsvaga kuchinja mune rimwe gene rinosanganiswa nehutano hwemagetsi. Kuongorora kweDNA kunogonawo kukwanisa kuona chero nhengo dzemhuri dzine kana dziri pangozi,, dzichirikudzikisa hutachiona hwehutano.
Chimwe chiyero chakajairika chiyero che phenylketonuria , chinoitwa kune vose vacheche vacheche. Kana mwana wako, nekuda kwekuzvarwa kana kuti kuchinja, asina ruzivo runorayira ye enzyme phenylalanine hydroxylase, chero phenylalanine yavanodya inogona kukonzera kukanganisa kwehupi. Kana, zvakadaro, gwesi risina kujairika rinowanikwa pakuberekwa, vana vanogona kutora upenyu hwakaenzana nekutevera kudya kunogadzirisa.
Chimwe chiedzo chiremba wako angaronga ndechekaryotype . Karyotypes tarisa ma chromosomes muDNA. Mamwe mapepa eDNA kana kuti zvishayikwa zvinogona kuratidza maitiro ezvakaipa. Kana mwana wako ane ma chromosomes 47 panzvimbo yeanowanzogara 46 uye ane makopi matatu echromosome 21 pane maviri, vane Down's syndrome .
Down syndrome ndiyo yakanyanya kufanana nekromosomal isina kunaka. Kuwanda kwepamuviri nemakromosomes asingaverengeki kunoguma pakupererwa pamuviri. Kana iwe uine nhoroondo yekunonoka kwemashure, chiremba wako anogona kukurudzira mavabereki karyotype miedzo.
Mune zvimwe zviitiko, iwe unogona kunge usina hutachiwana, asi kana iwe uine kopi isina kukodzera mumagenjini ako, unoisa pangozi kupfuudza chirwere ichi kusvika kuvana vako. Muenzaniso weiyi ndeye cystic fibrosis. Cystic fibrosis inogadzirisa zvinhu zvakadzama, zvinoreva kuti unofanirwa kugamuchira kopi isina kuchena yeCFTR gene kubva kune vabereki vako vose kuitira kuti uve nechirwere. Vabereki vanogona kusarudza kuva nemaitiro ekuongorora maitiro e cystic fibrosis kuti vaone kana vari vatakuri.
Kana iwe wakatakura chimwe chimiro chechimiro, chiremba wako anogona kukurudzira preimplantation genetic test, iyo inoshandiswa kuona kana mucheche wakaberekwa ne in vitro fertilization (IVF) ine chirwere chema genetic uyewo sarudzo dzinoshandiswa kuti dzisagadziriswe.
Imwe shanduro yekushandiswa kwemajini inotarisa inotarisa matumire. Matumbu mazhinji ane maitiro ekuchinja kwezvinhu anowedzera "kukura kwawo. Kuongorora mazita evanhu vanogona kuudza kana kana kwete chepenza inokonzera kuchinjwa kwechirwere ichi. Zvizhinji zvemajeni kuchinja mumasero emukenza zvinoitika mushure mokuberekwa uye hausi nhaka kunze kwe BRCA1 ne BRCA2, iyo inobatanidza nekenza yemazamu.
Dzimwe Mhando dzeGenetic Testing
Paternity testing inosimbisa kuti mwana wako ane chimiro chakafanana nababa vavo. Kuongorora kwepaternity kunonzi kwakatendeseka kune imwe chete isingadikanwi, chimerism. Kana iwe uri chimera, masero ako angave akasiyana neDNA. Izvi zvinowanzoitika mumapatya, avo vanogovana DNA nemamwe mapatya; mumadzimai avo vakaberekwa uye vangangodaro vakatora DNA kubva kumwana wavo, uye avo vakave nokuwedzerwa kana kuchinja muviri. Mosaic Down syndrome chimwe chimiro che chimera.
Kuongorora zvirwere zvepabonde kunoshandiswawo pamapurisa emhosva. Forensic ongororo mapoka anoshandisa miedzo yakakosha kuti awedzere kuwanda kweDNA inowanika kuongororwa. DNA pachiitiko chemhosva chinogona kubva mumasero eropa, masero emadhi, kana mamwe masero emuviri akadai semvere kana salivha. DNA yeMitochondrial haisati yashandiswa mu forensics.
Kushandisa kukuru kwekuongorora mazita ekuberekwa kunosangana nemadzitateguru. DNA kubva kuvanhu vaviri inogona kuenzaniswa nekuona kana yakafanana nenzira dzakakosha dzinogona kureva kuti dzakabatana. DNA yeMitochondrial, zvakasiyana neyenyukireya DNA, haisi kuwanika mukati memusero wega rimwe nerimwe, asi inowanikwa mumitochondria - organelles mu cytoplasm yesero iyo inoshanda semusimba weesero uye inosanganisira chromosome imwe chete akaputirwa muchitenderedzwa. DNA yeMitochondrial yakapfupika kudarika nuclear yenyu DNA uye inotakura bhueprint (mageji 37 bedzi) kune mashomanana mashomanana anowanikwa mumetabolism.
DNA yeMitochondrial inopfuudzwa kubva kuna amai voga. DNA test mitochondrial haina kupa chero ruzivo pamusoro pababa vako asi inogona kubatsira kuziva vana vemwana-kunyange makore mazhinji munguva yakapfuura. DNA yeMitochondrial, kusiyana neyenyukireya DNA iri nyore kwazvo kuuya nayo uye inogona kushandiswa kuita chizivi (kunyanya vanaamai) kunyange kana pasina DNA yenyukireya iripo.
Kuwanda Kwemagetsi Kunobatsira Zvakadini?
Mari inoshandiswa kuongororwa kweDNA inobva kune rudzi rwekuedza runoda kuitwa. Mimwe miedzo iri nyore, sekuedza kwepaternity kana iyo inoshandiswa pakuona nyore nyore kuona maitiro ezvisikwa, inogona kudhura mazana mashoma madhora kana pasi. Zvimwe zvakaoma kuongororwa, zvakadai sevasingawanzogadzirisa zvirwere zvegenetic, zvinogona kutenga zviuru zvemadhora. Nenzira yakanaka, nekuda kwemajini ekutanga uye makambani anopa kuenzaniswa kwemadzitateguru, miedzo yakawanda yakawanda yakaderera mumutengo.
Maitiro eGenetic Testing
Pane kupokana kwakanyanya pamusoro pemashandisirwo emishandisirwo emamwe mapirisa ekuberekwa. Kana mamwe mamiriro akawanikwa pakuberekwa, zvakadai se phenylketonuria, mwana wako angave neramangwana rakanaka. Zvisinei, haasi mamiriro ose emararamiro anokwanisa kurapwa uye zvimwe hazvionekwi kusvikira munhu mukuru. Chirwere cheHuntington, chirwere chinoramba chichirarama neurological, chinowedzera gare gare muupenyu uye hachina kurapwa kana kurapwa. Mumamiriro ezvinhu akadai, vamwe vanhu forego kuedza.
Mune zvimwe zviitiko, iwe unogona kunge wakatarwa "nekenza yemaronda," sa BRCA1 uye BRCA2. Kuziva kuti une majini aya anogona kukubatsira kuita zvisarudzo zvinokosha pamusoro pehutano hwako. Zvisinei, ndicho chaunosarudza, uye kana uri nani pane kana usina ruzivo.
> Sources:
> Chard, R., uye M. Norton. Mazano Okuberekwa Kwevarwere Kuongorora Kuongorora uye Kuongororwa kweChromosomal Dambudziko. Clinical Laboratory Testing . 2016. 36 (2): 227-36.
> Fonda Allen, J., Stoll, K., naBernhardt. Pre-uye Post-Test Test Genetic Counseling for Chromosomal uye Mendelian Disorders. Seminari muPerinatology . 2016. 49 (1): 44-55.