Cytogenetics: ndi chiyani, mayeso amayesedwa bwanji komanso kuti ndi a chiyani

Zamkati

• Ndi chiyani
• Momwe zimachitikira

Kuyesa kwa cytogenetics kumafuna kupenda ma chromosomes ndipo, chifukwa chake, kuzindikira kusintha kwa chromosomal kokhudzana ndi zomwe munthu am'chipatala. Kuyesaku kumatha kuchitika msinkhu uliwonse, ngakhale nthawi yomwe ali ndi pakati kuti muwone zosintha zamtundu wa mwana.

Cytogenetics imalola dokotala ndi wodwalayo kuti adziwe mwachidule matupi athu, kumuthandiza adotolo kuti apeze matendawa ndikuwongolera chithandizo, ngati kuli kofunikira. Kuyeza uku sikufuna kukonzekera kulikonse ndipo zosonkhetsa sizitenga nthawi kuti zipangidwe, komabe zotsatira zake zitha kutenga pakati pa masiku 3 mpaka 10 kuti zizituluka malinga ndi labotale.

Ndi chiyani

Kuyesedwa kwa cytogenetics ya anthu kumatha kuwonetsedwa kuti mufufuze zosintha za chromosomal, mwa ana komanso akulu. Izi ndichifukwa choti imayesa chromosome, yomwe ndi DNA ndi mapuloteni omwe amagawidwa m'maselo awiriawiri, pokhala 23 awiriawiri. Kuchokera pa karyogram, yomwe imafanana ndi dongosolo la chromosome bungwe malinga ndi mawonekedwe ake, omwe amamasulidwa chifukwa cha mayeso, ndizotheka kuzindikira kusintha kwama chromosomes, monga:

• Zosintha zingapo, zomwe zimadziwika ndi kuchuluka kapena kuchepa kwa ma chromosomes, monga zomwe zimachitika mu Down syndrome, momwe kupezeka kwa ma chromosomes atatu 21 kumatsimikiziridwa, pomwe munthu ali ndi ma chromosomes okwana 47;
• Kusintha kwapangidwe, momwe mungasinthire, kusinthana kapena kuchotsa dera linalake la chromosome, monga matenda a Cri-du-Chat, omwe amadziwika ndi kuchotsedwa kwa gawo la chromosome 5.

Chifukwa chake, atha kufunsidwa kuti athandizire kupeza mitundu ina ya khansa, makamaka ma leukemias, ndi matenda amtundu omwe amadziwika ndi kusintha kwamachitidwe kapena kuwonjezeka kapena kuchepa kwa ma chromosomes, monga Down syndrome, Patau syndrome ndi Cri-du -Chat, wotchedwa meow syndrome kapena kufuula kwamphaka.

Momwe zimachitikira

Kuyesaku kumachitika kawirikawiri pamaziko a magazi. Pakufufuza amayi apakati omwe cholinga chawo ndikuwunika ma chromosomes a mwana wosabadwa, amniotic fluid kapena magazi ochepa amatengedwa. Pambuyo posonkhanitsa zinthu zamoyozo ndikuzitumiza ku labotale, maselowa amakonzedwa kuti azichulukana kenako ndikuwonjezera choletsa magawano am'magazi, zomwe zimapangitsa kuti chromosome ikhale mawonekedwe ake abwino kwambiri ndikuwoneka bwino.

Kutengera cholinga cha mayeso, njira zingapo zamagulu zitha kugwiritsidwa ntchito kuti mudziwe zambiri za karyotype ya munthu, yomwe imagwiritsidwa ntchito kwambiri kukhala:

• Kulumikiza G: ndi njira yomwe imagwiritsidwa ntchito kwambiri mu cytogenetics ndipo imakhala ndi utoto, utoto wa Giemsa, kuti mulole kuwonera ma chromosomes. Njirayi ndiyothandiza kwambiri kudziwa kuchuluka kwa manambala, makamaka, komanso kapangidwe kake mu chromosome, pokhala njira yayikulu yamagulu yogwiritsidwa ntchito mu cytogenetics pozindikira komanso kutsimikizira Down syndrome, mwachitsanzo, yomwe imadziwika ndi kupezeka kwa chromosome yowonjezera;
• Njira za FISH: ndi njira yowonekera kwambiri komanso yovuta, yogwiritsidwa ntchito kwambiri pothandiza kupeza khansa, chifukwa imalola kuzindikira kusintha kwakung'ono kwama chromosomes ndi kukonzanso, kuphatikiza pakuzindikiritsa kusintha kwamanambala mu ma chromosomes. Ngakhale kuti ndi yothandiza kwambiri, njira ya FISH ndiyokwera mtengo kwambiri, chifukwa imagwiritsa ntchito ma projekiti a DNA olembedwa ndi fluorescence, kufuna chida chojambulira kuwala ndi kulola kuwonera ma chromosomes. Kuphatikiza apo, pali njira zina zofikirika mu biology yama cell zomwe zimalola kuti mupeze khansa.

Kutsatira kugwiritsa ntchito utoto kapena ma probes olembedwa, ma chromosomes amapangidwa molingana ndi kukula, awiriawiri, awiri omaliza ofanana ndi amuna, kenako poyerekeza ndi karyogram yabwinobwino, potengera momwe zingasinthire.