Kuyezetsa magazi kungakuuzeni za majini anu ndi mbiri ya banja lanu
Thupi lanu limapangidwa ndi maselo mabiliyoni ambiri. M'kati mwa maselo onsewo muli dongosolo lomwe limatchedwa khungu, lomwe limagwirizanitsa mawiri awiri a ma chromosome omwe amanyamula mauthenga anu. Chromosome iliyonse imapangidwa ndi chingwe chotalika chotchedwa DNA, chomwe chimapangidwa ndi mankhwala otchedwa deoxyribonucleic acid (DNA).
Gawo la chromosomes yanu limatengedwa kuchokera kwa amayi anu ndipo theka lina lachokera kwa atate anu, kukupatsani ma copies awiri a jini.
Anthu ali ndi majini pafupifupi 25,000. DNA yanu imayendera limodzi mwa magawo awiri a majini.
Majini anu amanyamula zambiri zokhudza zomwe zimakupangitsani inu. Onse awiriwa amaphatikizapo kupanga mapangidwe apadera, monga chikhombo, chomwe chimauza thupi lanu ngati mutakhala ndi tsitsi lofiirira, khungu la azitona, kapena maso anu a buluu opukuta. DNA yanu imauzanso maselo anu momwe angakhalire, kukula, ndi nthawi yoti afe.
Ganizirani za DNA yanu ngati makwerero. Zitsulozi zimapangidwa ndi maziko a nucleotide. Lamulo la mazikolo liri ngati makalata a zilembo. Makalata amenewa, ndiwonso, anakonza m'njira zomwe zimatanthauzira "mawu". Mawu awa amalembedwa (amalembedwa) ndi kutanthauzira (amatanthauziridwa) mu mapuloteni (mavitamini) omwe amalamulira chirichonse mu thupi lathu. Ngati jini litasinthidwa, mukhoza kuganizira izi monga kusakaniza makalata a zilembo. Mawuwo amatuluka molakwika ndipo chiganizo chonsecho n'cholakwika. Ngati jini kapena dera la DNA liri ndi ntchito yofunikira, mavuto amabweretsa.
Ngati imatulutsa mapuloteni omwe amachititsa kuti magulu a maselo asaguluke, khansa ikhoza kuchitika. Nthaŵi zina DNA yochulukirapo, monga ma chromosome atatu m'malo mwa awiri, ingayambitse matenda monga matenda a Down syndrome.
Kupeza DNA Yanu Yayesedwa
Mukayesedwa DNA yanu, DNA yanu imasulidwa ndikuwerengedwa. Popeza selo lililonse lili ndi DNA kuposa mamita asanu ndi limodzi mkati mwa selo iliyonse (DNA imamangiriridwa mwamphamvu kuti ikonze chromosome, kotero kuti imalowa mkatikati), selo lirilonse lingakhale ndi mauthenga ambiri a chibadwa kuchokera kwa wina aliyense china.
Chokhacho ndicho mapasa ofanana, omwe amagawana DNA ofanana.
Kuti muyese DNA, muyenera kutenga chitsanzo cha maselo anu. Chitsanzochi chingakhale cha mwazi wanu, mashala, maselo a khungu kapena mkati mwa tsaya lanu. Ngati muli ndi khansa, DNA yanu idzatengedwa kuchokera ku chitsanzo cha chotupa chanu. Kawirikawiri, zitsanzo za DNA zimatengedwa ndi dokotala kapena chipatala ndipo zimatumizidwa ku labu apadera la kuyesa ma jini komwe DNA yanu imasiyanitsidwa ndi maselo anu.
Kuti muyesedwe magazi, singano ndi syringe zimayenera kukoka zitsanzo za magazi. Kuti mupereke saliva chitsanzo, mumadulala mu chubu. Kuti tsaya lizikhazikike, kukwapula mkati mwa tsaya lanu ndi swab yaikulu ya thonje iyenera kugwira ntchitoyi.
Zidzatenga sabata kapena kuposerapo zotsatira zobwerera kuchokera ku labu, chifukwa zimatengera akatswiri a labata nthawi kuti ayambe kufotokoza ndi kuwerengera chiwerengero cha chibadwa cha DNA.
Kuyesedwa kwa Matenda a Genetic
Ngati dokotala akukudandaulirani kuti mwana wanu ali ndi matenda a chibadwa, adzayesa mayeso ena kuti azindikire vutoli. Asayansi angayang'ane kusintha kwa jini inayake yogwirizana ndi matenda enaake a chibadwa. Kuyezetsa DNA kungathe kuzindikiranso anthu omwe ali ndi chiwopsezo, omwe ali ndi chiwopsezo, komanso omwe ali ndi chiopsezo.
Chiyeso chimodzi chodziwika ndi mayeso a phenylketonuria , omwe amachitika kwa ana onse obadwa kumene. Ngati mwana wanu, chifukwa cha chibadwidwe kapena kusinthika, alibe jini lomwe limatchula kuti puloteni phenylalanine hydroxylase, phenylalanine iliyonse yomwe amadya ikhoza kuwononga ubongo. Komabe, ngati jini losadziwika likatulukiridwa pa kubadwa, ana angapangitse moyo wathanzi mwa kutsatira zakudya zoletsa.
Chitsanzo china chimene dokotala wanu angakhoze kulamula ndi karyotype . Karyotypes yang'anani ma chromosome mu DNA. Mabaibulo ena a DNA kapena zidutswa zosakwanira zingasonyeze kuti pali zovuta zenizeni. Ngati mwana wanu ali ndi ma chromosome 47 mmalo mwake mwachizolowezi 46 ndipo ali ndi makope atatu a chromosome 21 m'malo mwa awiri, ali ndi matenda a Down .
Matenda a pansi ndi omwe amavuta kwambiri chromosomal. Amayi ambiri omwe ali ndi ma chromosomes omwe sakhala ochepa amapita padera. Ngati muli ndi mbiri yowonongeka mobwerezabwereza, dokotala wanu angalimbikitse mayeso a makolo a karyotype.
Nthaŵi zina, simungakhale ndi matenda a chibadwa, koma ngati muli ndi kachilombo kosazolowereka m'magulu anu, mumayesedwa kuti muwapatse ana anu. Chitsanzo cha izi ndi cystic fibrosis. Cystic fibrosis ndizovuta kugwiritsidwa ntchito motere, kutanthauza kuti muyenera kutenga kachilombo kosazolowereka kwa makolo anu onse kuti mukhale ndi matendawa. Makolo angasankhe kukhala ndi kuyesa kwa majini kwa cystic fibrosis kuti awone ngati ali onyamula.
Ngati muli ndi matenda enaake, dokotala wanu akhoza kulangiza kuyesa koyambirira kwa majeremusi, yomwe imagwiritsidwa ntchito kuona ngati mimba yomwe imatengedwa ndi in vitro fertilization (IVF) imakhala ndi matenda a chibadwa komanso imatulutsa mazira omwe sakhala ndi matendawa.
Ntchito ina yachipatala yowonongeka kwa majeremusi ikuyang'ana mimba. Matenda ambiri ali ndi kusintha kwa majini omwe amachititsa kuti kukula kwawo kukule. Kuyezetsa magazi kumatha kudziwa ngati khansara yeniyeni imatha kusintha ndi mankhwala opatsirana pogwiritsa ntchito mankhwala. Mitundu yambiri ya majeremusi imasinthika mthupi la khansara ikadzabadwa ndipo sichibadwa chophatikizapo BRCA1 ndi BRCA2, zomwe zimayambitsidwa ndi khansa ya m'mawere.
Mitundu Yina Yoyesera Zachibadwa
Kuyesedwa kwa abambo kumatsimikizira kuti mwana wanu ali ndi chibadwa cha abambo awo. Mayesero achilengedwe amaonedwa kuti ndi odalirika ndi chimodzi chosiyana, chimerism. Ngati muli chimera, maselo anu akhoza kukhala ndi DNA yosiyana. Izi zimachitika kawirikawiri m'mapasa, omwe amagawana DNA ndi mapasa ena; mwa amayi amene abereka ndipo mwinamwake anatenga DNA kuchokera kwa mwana wawo, ndi omwe apatsidwa magazi kapena ziwalo zina. Mosaic Down matenda ndi mtundu wina wa chimera.
Kuyezetsa magazi kumagwiritsidwanso ntchito pazochitika zachiwawa. Magulu ofufuza kafukufuku akugwiritsa ntchito mayesero apadera kuti awonjezere kuchuluka kwa DNA komwe angapangidwe kuti ayesedwe. DNA pa zochitika zachiwawa zingachokere ku maselo a magazi, maselo a umuna, kapena maselo ena a thupi monga tsitsi kapena malaya. DNA ya Mitochondrial siigwiritsidwa ntchito kawirikawiri m'ma forensics.
Kugwiritsidwa ntchito kwakukulu kwa kuyesedwa kwa majini ndiko kuyesa makolo. DNA kuchokera kwa anthu awiri akhoza kuyerekezedwa kuti awone ngati ali ofanana ndi njira zina zofunika zomwe zingatanthauze kuti akugwirizana. DNA ya Mitochondrial, mosiyana ndi nyukiliya ya DNA, sichipezeka mu mtima wa selo iliyonse, koma imapezeka mu mitochondria - organelles mu cytoplasm ya selo yomwe imakhala ngati mphamvu ya selo ndipo ili ndi kromosome imodzi yokha atakulungidwa mu bwalo. DNA ya Mitochondrial ndi yochepa kwambiri kuposa DNA ya nyukiliya ndipo imanyamula mapangidwe (majeremusi 37 okha) ndi mavitamini ochepa okha omwe amapezeka m'magazi.
DNA ya mitochondrial imachokera kwa mayi yekha. Mayeso a DNA a mitochondrial sakupatsani chidziwitso chilichonse chokhudza abambo anu koma angathandize kuzindikira mzere wa amayi-ngakhale zaka zambiri m'mbuyomo. DNA ya Mitochondrial, mosiyana ndi DNA ya nyukiliya imakhala yosavuta kubwera ndipo ingagwiritsidwe ntchito kudziwika (ngakhale amayi) ngakhale pamene palibe DNA ya nyukiliya yomwe ilipo.
Kodi Kuyeza Kwachibadwa Kumakhala Ndalama Ziti?
Mtengo wa kuyesedwa kwa DNA kumadalira mtundu woyesera womwe uyenera kuchitidwa. Mayesero ena ophweka, monga mayesero a paternity kapena omwe amagwiritsidwa ntchito posavuta kuzindikira kuti zamoyo zimasinthika, akhoza kutenga madola mazana angapo kapena osachepera. Kuyesedwa kovuta kwambiri, monga matenda osadziwika a ma genetic, kukhoza ndalama zambiri. Mwamwayi, chifukwa cha kuyambira kwa majini ndi makampani omwe amapereka kuyerekezera kwa makolo, mayesero ofala kwambiri achepa patsiku.
Mayendedwe a ma Genetic Testing
Pali kusiyana kwakukulu pamagwiritsidwe ntchito kachitidwe ka mayeso ena omwe ali ndi kachilombo ka HIV. Ngati zizindikiro zina zimapezeka pa kubadwa, monga phenylketonuria, mwana wanu akhoza kukhala ndi tsogolo labwino. Komabe, sikuti mitundu yonse ya mafupa imatha kuchiritsidwa ndipo ena samawonekera kufikira atakula. Matenda a Huntington , matenda osokoneza ubongo, amayamba m'moyo ndipo alibe chithandizo kapena chithandizo. Pazochitika ngati izi, anthu ena akuyesa kutsogolo.
Nthawi zina, mukhoza kukhala ndi "khansa ya khansa," monga BRCA1 ndi BRCA2. Kudziwa kuti muli ndi majini awa kungakuthandizeni kupanga zosankha zofunika pa umoyo wanu. Komabe, ndizo kusankha kwanu, ndipo ngati mukukhala bwino kapena opanda chidziwitso.
> Zotsatira:
> Chard, R., ndi M. Norton. Kupereka Malangizo kwa Achilendo kwa Odwala Kuganizira Kufufuza ndi Kufufuza kwa Chromosomal Zovuta. Kuyeza kwachipatala . 2016. 36 (2): 227-36.
> Fonda Allen, J., Stoll, K., ndi B. Bernhardt. Uphungu Wotsatsa Pre-Post-Test Testing for Chromosomal ndi Mendelian Disorders. Masemina mu Perinatology . 2016. 49 (1): 44-55.