Ma Chromosome ali ndi mauthenga achibadwa mwa mawonekedwe a majini. Mutu wa selo iliyonse yaumunthu, kupatula dzira ndi umuna, uli ndi ma chromosomes 46, opanga awiri awiri. Chromosome imodzi m'magulu awiriwa imachokera kwa mayi, ndipo inayo imachokera kwa bambo. Mwamuna ndi mkazi onse awiri, awiri mwa awiri ndi awiri omwe ali ndi ma chromosomes ali ofanana, koma ma chromosome okhawo amakhala osiyana. Azimayi ali ndi X-chromosomes (XX), ndipo mwa amuna alipo X - ndi Y-chromosome imodzi (XY). Chifukwa chake, kachitidwe kake ka chromosomes (karyotype) ya wamphongo ndi 46, XY, ndi wamkazi - 46, XX.
Chromosomal zosavomerezeka
Ngati cholakwikacho chimachitika pa mtundu wina wa selo, momwe ma oocyte ndi spermatozoa amapangidwira, ndiye kuti majeremusi osasamala amayamba, zomwe zimabweretsa kubadwa kwa ana ndi matenda a chromosomal. Kusiyanitsa kwa chromosomal kungakhale kokwanira komanso yokhazikika.
Kukula kwa kugonana kwa mwana
Pomwe zinthu zilili bwino, kukhalapo kwa Y-chromosome kumabweretsa chitukuko cha mwana wamwamuna, mosasamala kanthu za chiwerengero cha X-chromosomes, ndi kusowa kwa Y-chromosome - kuti chitukuko cha fetus ya mwana. Anomalies a ma chromosome ogonana ali ndi zotsatira zochepetseratu za thupi (phenotype) kusiyana ndi zolakwika za autosomal. Y-chromosome ili ndi majini ang'onoang'ono, kotero makope ake ena ali ndi zotsatira zochepa. Amuna ndi akazi amafunika kukhala ndi khungu limodzi lokha la X chromosome. Zambiri za X-chromosomes nthawi zambiri sizigwira ntchito. Njirayi imachepetsanso zotsatira za X-chromosomes, chifukwa ma copies osasintha ndi osasinthika, amachokera ku X chromosome imodzi yokha "yogwira ntchito". Komabe, pali majini ena pa X chromosome omwe amapewa kusokoneza. Zimakhulupirira kuti kukhalapo kwa imodzi kapena ziwiri zofalitsa za majeremusi otere ndizo chifukwa cha zovuta zowonongeka zomwe zimagwirizanitsa ndi kusalingana kwa chromosome ya kugonana. M'ma laboratori, kufufuza kwa kromosome kumachitika pansi pa kuwala kwa microscope pamakono aakulu a 1000. Ma chromosome amangoonekera pokhapokha selo ligawidwa kukhala maselo awiri a mwana wamkazi. Kuti mupeze ma chromosomes, magulu a magazi amagwiritsidwa ntchito omwe amakulira mu sing'anga yapadera yomwe imakhala ndi zakudya zambiri. Pa gawo linalake la magawano, maselo amathandizidwa ndi njira yothetsera yomwe imawapangitsa kuti ayambe kutupa, zomwe zimaphatikizapo ndi "kusuntha" ndi kulekanitsa ma chromosome. Maselo amaikidwa pa microscope slide. Pamene zikuuma, nembanemba imatuluka ndi kutulutsa ma chromosomes kupita kumalo akunja. Chromosomes ndi amitundu kotero kuti aliyense wa iwo amaoneka ngati kuwala ndi mdima (discs), zomwe zimayendera pa awiri ndi awiri. Maonekedwe a chromosomes ndi mawonekedwe a diski amaphunzira mosamala kuti azindikire chromosome iliyonse ndikudziwitsanso zolakwika zomwe zingatheke. Zowonongeka zamakhalidwe zimachitika pamene pali kusowa kapena kupitirira kwa ma chromosome. Ma syndromes ena omwe amayamba chifukwa cha zofooka zoterezi ali ndi zizindikiro zoonekeratu; ena ali pafupi osawoneka.
Pali zinthu zinayi zowonongeka kwambiri, zomwe zimayambitsidwa ndi matenda ena: 45, X - Turner syndrome. 45, X, kapena kukhalabe ndi kromosome yachiwiri yokhudza kugonana, ndi karyotype yodziwika kwambiri mu matenda a Turner. Anthu omwe ali ndi matendawa ali ndi akazi; Nthawi zambiri matendawa amapezeka pakuberekera chifukwa cha zizindikiro zoterozo ngati khungu limakumba kumbuyo kwa khosi, kutupa kwa manja ndi mapazi ndi kulemera kwa thupi. Zizindikiro zina zimaphatikizapo msinkhu wochepa, khosi lalifupi ndi pterygoid mapepala, chifuwa chachikulu chomwe chili ndi nkhono zapamwamba, zofooka za mtima komanso zosaoneka bwino. Amayi ambiri omwe ali ndi matenda a Turner ali osabereka, alibe msambo ndipo samakhala ndi makhalidwe achiwerewere achiwiri, makamaka matenda a mammary. Pafupifupi odwala onse, ali ndi chizoloŵezi chokula msinkhu. Zotsatira za matenda a Turner ali pakati pa 1: 5000 ndi 1:10 000 akazi.
■ 47, XXX - trisomy ya X chromosome.
Pafupifupi 1 pa 1000 azimayi ali ndi karyotype 47, XXX. Azimayi omwe ali ndi matendawa nthawi zambiri amakhala wamtali ndi ofooka, opanda zooneka zosaoneka bwino. Komabe, nthawi zambiri zimakhala zochepa mu nzeru ndi mavuto ena mu kuphunzira ndi khalidwe. Amayi ambiri omwe ali ndi X-chromosome ya trisomy ali ndi chonde ndipo amatha kukhala ndi ana okhala ndi chromosomes. Matendawa sapezeka kawirikawiri chifukwa cha maonekedwe osokonezeka a makhalidwe a phenotypic.
■ 47, XXY - Matenda a Klinefelter. Pafupifupi anthu 1 pa 1,000 ali ndi matenda a Klinefelter. Amuna omwe ali ndi karyotype ya 47, XXY amawoneka bwino nthawi yoberekera ndi adakali ana, kupatulapo mavuto ang'onoang'ono pa kuphunzira ndi khalidwe. Zizindikiro zimadziwika pa nthawi ya kutha msinkhu ndipo zimakhala ndi kukula kwakukulu, mapulaneti ang'onoang'ono, kusowa kwa spermatozoa, ndipo nthawi zina sichikukwanira kwa makhalidwe achiwerewere omwe ali ndi mazira okulitsa.
■ 47, XYY - XYY matenda. Y yonjezeramu Y yatsopano imapezeka pakati pa anthu 1 pa 1,000. Amuna ambiri omwe ali ndi matenda a XYY amawoneka ofanana, koma ali ndi kukula kwakukulu komanso nzeru zochepa. Ma Chromosome omwe amawoneka mofanana amafanana ndi kalata X ndipo ali ndi zida ziwiri zazifupi ndi ziwiri. Chitsanzo cha matenda a Turner ndi zotsatirazi zotsatirazi: isochromosome pa mkono wautali. Pogwiritsa ntchito mazira kapena spermatozoa, kupatukana kwa ma chromosomes kumachitika, potsutsana ndi kusiyana kwa chromosome yomwe ili ndi mapewa awiri aatali ndi kusakhala kwathunthu kwa ma chromosome mafupipafupi; chromosome. Amapangidwa chifukwa cha kutaya kwa mapeto a zida zazing'ono komanso zazing'ono za X chromosome ndi kugwirizana kwa magawo otsalawo ku mphete; kuchotsa (kutayika) kwa mbali ya mkono wamfupi ndi umodzi wa X chromosomes. Anomalies a mkono wautali wa X chromosome nthawi zambiri amachititsa kuti pang'onopang'ono kusagwira ntchito, monga kusamba kwa msambo.
Y-chromosome
Jini yomwe imayambitsa kukula kwa mimba ya mimba ili pambali yaifupi ya Y chromosome. Kutaya kwa mkono wochepa kumapangitsa kuti pakhale mawonekedwe a phenotype wamkazi, nthawi zambiri ndi zizindikiro zina za Turner's syndrome. Matenda pamtundu wautali ndi omwe amachititsa kuti chonde chibereke.