Cholinga ndi Zochitika Zophatikizidwa mu Testary Karyotype
Ngati dokotala wanu wakupatsani chiyeso cha karyotype kwa inu kapena mwana wanu, kapena pambuyo pa amniocenteis, kodi zotsatirazi zikuphatikizapo chiyani? Kodi ndizifukwa zotani zomwe karyotype ingadziŵe, ndiyeso yotani pakuchita mayesero, nanga zolephera zake ndi ziti?
Chiyeso cha Karyotype Ndi Chiyani?
Karyotype ndi chithunzi cha chromosomes mu selo . Ma karyotypes amatha kutengedwa m'maselo a magazi, maselo a khungu (kuchokera ku amniotic fluid kapena placenta), kapena maselo a m'mafupa.
Kodi Ndi Zinthu Ziti Zimene Zingadziŵike ndi Testato ya Karyotype?
Ma Karyotypes angagwiritsidwe ntchito poyang'ana ndi kutsimikizira zovuta za chromosomal monga Down's syndrome, ndipo pali mitundu yosiyanasiyana ya zovuta zomwe zingapezeke.
Imodzi mwa izi ndi zovuta zomwe zili ndi makope atatu a chromosomes osati awiri. Mosiyana, monosomies zimachitika pamene kope limodzi (m'malo awiri) liripo. Kuphatikizana ndi zovuta ndi zonyansa zokhudzana ndi chromosome zimakhala zosowa za chromosome, komanso kutumiza kwa chromosome, komwe mbali imodzi ya chromosome imagwirizanitsidwa ndi wina chromosome (ndipo mosiyana ndi kusintha kwake).
Zitsanzo za zovuta zimaphatikizapo:
- Down syndrome (trisomy 21)
- Matenda a Edward ( trisomy 18 )
- Patau syndrome (trisomy 13)
- Klinefelter's syndrome (XXY ndi zina zosiyana) - Matenda a Klinefelter amapezeka m'modzi mwa anyamata okwana 500 ndipo amawoneka ngati akuwonjezeka
- Matenda a X X (XXX)
Chitsanzo cha monosomy chimaphatikizapo:
- Matenda a Turner (X0) kapena monosomy X - Pafupifupi 15 peresenti ya kutaya mimba amachokera ku matenda a Turner, koma trisomy iyi ilipo pokhapokha pa 1 a 2000 kubadwa kwatsopano
Zitsanzo za kuchotsedwa kwa chromosomal zikuphatikizapo:
- Cri-du-Chat syndrome (kusowa chromosome 5)
- Matenda a Williams (kusowa chromosome 7)
Kusuntha - Pali zitsanzo zambiri za kusamutsidwa kuphatikizapo translocation Down syndrome. Kusamuka kwa Robertsonian kuli kofala, komwe kumachitika pafupifupi 1 mwa anthu 1000.
Mosaicism ndi mkhalidwe umene maselo ena m'thupi ali ndi vuto lachilendo pomwe ena samatero. Mwachitsanzo, matenda otchedwa Down syndrome kapena mosaic trisomy 9. Full trisomy 9 yotsutsana ndi moyo, koma trisomy mosavuta 9 ikhoza kubala moyo.
(Chitsanzo chili ndi mawu chikwi. Phunzirani za kusiyana pakati pa translocation, trisomy, ndi mosavuta Down syndrome .)
Kodi Karyotype Ikuchitika Liti?
Pali zinthu zambiri zomwe karyotype ingakonzedwe ndi dokotala wanu. Izi zingaphatikizepo:
- Makanda kapena ana omwe ali ndi matenda omwe amasonyeza kuti palibe chithunzithunzi chomwe sichinachitikepo.
- Akuluakulu omwe ali ndi zizindikiro amatsutsana ndi vuto la chromosomal (mwachitsanzo, amuna omwe ali ndi matenda a Klinefelter angayambe kusatulukira mpaka atha msinkhu kapena wamkulu.) Matenda ena a trisomy amatha kupezeka osadziwika.
- Kupanda mphamvu - Chibadwa cha karyotype chikhoza kuchitidwa chifukwa cha kusabereka. Monga tanenera kale, zina zosawonongeka za chromosomal zingayambe kuzidziwika mpaka munthu wamkulu. Mzimayi yemwe ali ndi matenda a Turner kapena mwamuna yemwe ali ndi mitundu yambiri ya Klinefelter sangakhale akudziŵa vutoli mpaka akulimbana ndi kusabereka.
- Kuyezetsa kwa amayi oyembekezera - Nthawi zina, monga kusamutsidwa kwa matenda a syndrome, chikhalidwe chikhoza kukhala cholowa ndipo makolo angayesedwe ngati mwana wabadwa ndi matenda a Down syndrome. (Ndikofunika kuzindikira kuti nthawi zambiri matenda a Down syndrome si matenda obadwa nawo koma amakhala ndi mwayi wosinthika.)
- Kubadwanso - Karyotype nthawi zambiri imachitidwa ngati gawo la kuyesedwa pambuyo pa kubereka.
- Kusokonekera kobwerezabwereza - Karyotype ya makolo yowonongeka mobwerezabwereza ingapereke zifukwa zowonjezera za kuwonongeka kobwerezabwereza komweku. Zimaganizidwa kuti vuto la chromosomal, monga trisomy 16 ndilo chifukwa cha kuchepa kwapakati pa 50 peresenti.
- Kuyeza kwa khansa ya m'magazi komanso karyotype kungathandizenso kuthandizira kupeza matenda a leukemias, mwachitsanzo, mwa kufunafuna chromosome ya Philadelphia yomwe imapezeka mwa anthu ena omwe ali ndi matenda a khansa ya m'magazi kapena acute lymphocytic leukemia.
Mayeso a Karyotype Mayeso
Mayeso a karyotype angamveke ngati mayeso a magazi, omwe amachititsa kuti anthu ambiri adzifunse chifukwa chake zimatenga nthawi yaitali kuti zipeze zotsatira. Mayesowa ndi ovuta kwambiri atatha kusonkhanitsa. Tiyeni tiwone masitepe awa kuti muthe kumvetsetsa zomwe zikuchitika panthawi yomwe mukudikirira mayeso.
1. Zosakaniza Zitsanzo
Choyamba chochita karyotype ndiko kusonkhanitsa chitsanzo. Mwa ana obadwa kumene, nyemba ya magazi yomwe ili ndi maselo ofiira a magazi, maselo oyera a magazi, seramu, ndi zina zina zimasonkhanitsidwa. Karyotype idzachitidwa pa maselo oyera a magazi omwe akugawikana (boma lotchedwa mitosis). Pakati pa mimba, chitsanzocho chingakhale amniotic madzi omwe amasonkhanitsidwa panthawi ya amniocenteis kapena chidutswa cha pulasitiki chomwe chinasonkhanitsidwa pamayesero a chorionic villi (CVS). Amniotic zamadzimadzi ali ndi maselo a khungu la fetal omwe amagwiritsidwa ntchito popanga karyotype.
2. Kutumiza Kwa Laboratory
Karyotypes amachitikira mu labotayi yapadera yomwe imatchedwa cytogenetics lab - labu yomwe imaphunzira ma chromosome. Sizipatala zonse zomwe zili ndi ma cytogenetics labs. Ngati chipatala chanu kapena malo achipatala alibe kachipatala ka cytogenetics, mayeserowo adzatumizidwa ku labu yomwe ikugwiritsidwa ntchito mosanthula karyotype. Chitsanzo choyesera chimafufuzidwa ndi apadera ophunzitsidwa ndi cytogenetic technologyist, Ph.D. cytogeneticists, kapena ma geneticists.
3. Kulekanitsa Maselo
Pofuna kufufuza ma chromosomes, chitsanzocho chiyenera kukhala ndi maselo omwe akugawikana kwambiri. M'magazi, maselo oyera amagawanikana. Maselo ambiri a fetus amagawananso. Pamene nyembazo zimafikira pa cytogenetics labu, maselo osagawanika akulekanitsidwa ndi maselo ogawanika pogwiritsa ntchito mankhwala apadera.
4. Maselo Okula
Kuti mukhale ndi maselo okwanira kuti musanthule, maselo ogawanitsa amakula muzipangizo zamakono kapena chikhalidwe cha selo. Zofalitsazi zili ndi mankhwala ndi mahomoni omwe amathandiza maselo kugawa ndi kuchulukana. Ndondomeko iyi yotsatsa zikhoza kutenga masiku atatu kapena anayi kuti maselo a magazi, komanso mpaka sabata la maselo obadwa.
5. Kusinthasintha Maselo
Chromosomes ndi chingwe chalitali cha DNA ya anthu. Kuti muone ma chromosome pansi pa microscope, ma chromosome ayenera kukhala mu mawonekedwe awo ophatikizana mu gawo la selo logawanitsa (mitosis) lotchedwa metaphase. Pofuna kuti maselo onse apite kumalo osankhidwa a maselo, maselo amachiritsidwa ndi mankhwala omwe amaletsa kugawidwa kwa maselo panthawi yomwe ma chromosomes ndi ofanana kwambiri.
6. Kutulutsa Chromosomes Kuchokera Maselo Awo
Kuti muwone ma chromosome ophatikizana pansi pa microscope, ma chromosome ayenera kukhala kunja kwa maselo oyera a magazi. Izi zimachitika pochiza maselo oyera a mitsempha omwe ali ndi njira yapadera yomwe imawachititsa kuti awoneke. Izi zimachitika pamene maselo ali pa slide yaying'ono. Zotsalira zotsalira kuchokera ku maselo oyera a magazi zimatsukidwa, kusiya ma chromosome akugwiritsidwa ntchito.
7. Kusunga Chromosomes
Chromosomes mwachibadwa ndi zopanda mtundu. Kuti adziwe chromosome imodzi kuchokera kwa wina, dayi yapadera yotchedwa Giemsa daye imagwiritsidwa ntchito pazithunzi. Diso la Giemsa limawononga madera a chromosomes omwe ali olemera muzitsulo adenine (A) ndi thymine (T). Mukadetsedwa, ma chromosome amawoneka ngati zingwe ndi magulu owala ndi amdima. Chromosome iliyonse imakhala ndi mapangidwe apadera a magulu owala ndi amdima omwe amathandiza cytogeneticist kunena chromosome imodzi kuchokera kwa wina. Gulu lililonse lakuda kapena lowala limaphatikizapo majini osiyanasiyana osiyanasiyana.
8. Kusanthula
Ma chromosome akadetsedwa, zojambulazo zimayikidwa pansi pa microscope kuti ziwonedwe. Chithunzi chimatengedwa ndi ma chromosomes. Pamapeto pake, chiwerengero cha ma chromosome chidzatsimikiziridwa ndi ma chromosome omwe akukonzedwa ndi kukula.
9. Kuwerenga Chromosomes
Khwerero yoyamba ya kusanthula ndikuwerengera ma chromosomes. Anthu ambiri ali ndi ma chromosome 46. Anthu omwe ali ndi Down syndrome ali ndi ma chromosomes 47. N'zotheka kuti anthu asasowe chromosome, oposa chromosome imodzi yowonjezera, kapena gawo la chromosome yomwe ilipo kapena ikuphatikizidwa. Poyang'ana pa chiwerengero cha ma chromosomes, n'zotheka kudziwa matenda osiyanasiyana kuphatikizapo matenda a Down syndrome.
10. Kusankha Chromosomes
Pambuyo poyesa chiwerengero cha chromosomes, cytogeneticist iyamba kuyambitsa ma chromosomes. Pofuna kupanga mitundu ya chromosomes, katswiri wa cytogeneticist adzayerekeza kutalika kwa chromosome kutalika, kusungidwa kwa centromeres (malo omwe ma chromatids amalowa), ndi malo ndi kukula kwa G-band. Mitundu ya ma chromosome yawerengeka kuchokera kukulu (nambala 1) mpaka yaying'ono (nambala 22). Pali magulu awiri a ma chromosomes, otchedwa autosomes, omwe amagwirizana chimodzimodzi. Palinso ma chromosome a kugonana, akazi ali ndi ma X chromosomes pamene amuna ali ndi X ndi Y.
11. Kuyang'ana Chikhalidwe
Kuwonjezera pa kuyang'ana chiwerengero cha ma chromosomes ndi ma chromosomes a kugonana, cytogeneticist iwonanso momwe mapangidwe a chromosomes amachitira kuti atsimikizire kuti palibe chosowa kapena zina zowonjezera kuphatikizapo zolakwika monga zomangika. Kusamukira kumapezeka pamene mbali imodzi ya chromosome imagwirizanitsidwa ndi chromosome ina. Nthaŵi zina, ma chromosomes amatha kusinthanitsa (translocation yabwino) ndipo nthawi zina chidutswa chapadera chimaphatikizidwa kapena sichipezeka pa chromosome yokha.
12. Zotsatira Zomaliza
Pamapeto pake, karyotype yomaliza imasonyeza chiwerengero cha ma chromosomes, kugonana, ndi zovuta zonse zomwe zimakhala ndi ma chromosomes. Chithunzi cha digito cha chromosomes chimapangidwa ndi ma chromosome onse omwe akukonzedwa ndi nambala.
Ziyeso za kuyesa Karyotype
Ndikofunika kuzindikira kuti ngakhale kuyesa karyotype kungapereke zambiri pa chromosomes, mayeserowa sangakuuzeni ngati kusintha kwa majini, monga zomwe zimayambitsa cystic fibrosis , zilipo. Mphungu wanu wa chibadwa angakuthandizeni kumvetsa zonse zomwe karyotype mayesero angakuuzeni ndi zomwe sangakwanitse. Maphunziro ena amafunika kuti aone momwe ntchito yothetsera kusintha kwa majeremusi imakhudzira matenda kapena zolakwika.
Ndikofunika kudziwa kuti nthawi zina kuyezetsa karyotype sikuthetsa vuto linalake lopanda chromosomal.
Tsogolo
Pakali pano, kuyesedwa kwa karyotype pakadali kovuta kumakhala kovuta, kufunikira amniocentesis kapena chorionic villus. Zofukufuku zikupitiriza kuyesa DNA yopanda maselo mu chitsanzo cha magazi a mayi ngati njira yowonjezera yosavuta yothandizira kuti asatengere kachilombo ka fetus.
Chofunika Pakudikirira Zotsatira Zanu za Karyotype
Pamene mukudikirira zotsatira zanu za karyotype mumakhala mukudandaula kwambiri, ndipo sabata kapena ziwiri zimatengera kuti zotsatira zitha kumverera ngati eons. Tengani nthawiyi kudalira anzanu ndi abwenzi anu. Kuphunzira za zina mwa zinthu zomwe zimagwirizanitsidwa ndi ma chromosome osalimba zingakhale zothandiza. Ngakhale kuti zinthu zambiri zomwe zimapezeka ndi karyotype zingakhale zopweteka, pali anthu ambiri omwe amakhala ndi mikhalidwe imeneyi omwe ali ndi khalidwe labwino kwambiri.
> Zosowa
- > Kumar, Vinay, Abul K. Abbas, ndi Jon C. Aster. Mabala a Robbins ndi Cotran Pathologic Mavuto a Matenda. Philadelphia: Elsevier-Saunders, 2015. Print.
- > Norton, M., ndi B. Rink. Zizindikiro Kusintha kwa Kuyezetsa Koyambitsa Mu Nthawi Yoyesera Kuyesa. Masemina mu Perinatology . 2016. 40 (1): 56-66.
- > Shah, M., Cinnioglu, C., Maisenbacher, M., Comstock, I., Kort, J., ndi R. Lathi. Kuyerekeza kwa Cytogenetics ndi Molecular Karyotyping ya Chromosome Kuyesedwa kwa Kutulutsidwa M'madera Ena. Utsi ndi Wofooka . 2017. 107 (4): 1028-1033.