Matenda a Chromosomal - mndandanda wa zovuta kwambiri zomwe zimayambitsa matenda ndi zifukwa zawo

Matenda a Chromosomal ndi matenda a chibadwidwe, omwe amayamba chifukwa cha kusintha kwa chiwerengero kapena chiwerengero cha chromosomes. Matendawa amakhalanso ndi omwe amayamba chifukwa cha kusintha kwa thupi. Pali zovuta chifukwa cha kusintha kumene kumachitika m'magulu ogonana a makolo.

Lingaliro la matenda a chromosomal

Ichi ndi gulu lalikulu la matenda opatsirana, omwe ali ndi malo otsogolera mndandanda wa zobadwa za munthu. Maphunziro a pulogalamu yachitukuko kuchokera ku mimba yoyambirira imasonyeza kuti matenda a chromosomal amatha kudziwonetsera okha ngakhale m'mazira. Izi zikutanthauza kuti matendawa amayamba mu umuna kapena kumayambiriro kogawanika kwa zygote.

Mitundu ya matenda a chromosomal

Akatswiri amazoloŵera kugawaniza matenda onse m'zinthu zitatu zazikulu. Chizindikiro cha matenda a chromosomal chimadalira kuphwanya:

• ploidy;
• chiwerengero cha chromosomes;
• mawonekedwe a chromosomes.

Ambiri omwe amapezeka chifukwa cha kuphwanya ploidy - triploid ndi tetralopodium. Kusintha koteroko, monga lamulo, ndikokhazikika pazomwe zimapezeka chifukwa cha mimba. Amayi okhaokha omwe ali ndi vuto lofanana ndi amodzi amadziwika, ndipo nthawi zonse amalepheretsa moyo wawo wonse. Triploidy ndi chifukwa cha umuna wa ma diploid ovules ndi haploid spermatozoa kapena mosiyana. Nthawi zina vutoli limakhala chifukwa cha feteleza kamodzi ka spermatozoa.

Chromosome number disorder

Nthaŵi zambiri, matenda a chromosomal, omwe amachititsa kuswa kwa ma chromosomes, amawonetsedwa ndi monosomy kapena trisomy lonse. Pamapeto pake, nyumba zitatu za nucleoprotein ndi homologues. Pa vuto loyambirira la ma chromosomes, chimodzi mwa ziwiri zomwe zilipo muyikidwa chikhale chachilendo. Mmodzi wa monosomy uli pa chromosome X, chifukwa mazira ndi zina amafa mofulumira - ngakhale panthawi yoyamba ya intrauterine chitukuko.

Kusokonezeka kwa chromosome

Matenda omwe akutsutsana ndi chikhalidwe cha matenda a chromosome akuyimiridwa ndi gulu lalikulu la syndromes ndi mono- kapena trisomy. Zimayambira pamene pali kusintha kwa kayendedwe ka maselo okhudzana ndi kugonana kwa makolo. Kusokonezeka koteroko kumakhudza njira zowonongeka. Chifukwa chaichi, mu meiosis, pali kutayika kapena zowonjezereka za zidutswa za nucleoprotein. Zosasintha zapadera zotsatizana zingathe kuwonedwa mu chromosome iliyonse.

Zifukwa za matenda a chromosomal

Asayansi kwa nthawi yaitali amagwira ntchito pa nkhaniyi. Pomwepo, kusintha kwa chromosomal kwa matendawa kumayambitsa. Zimatsogolera ku zopotoka mu kapangidwe ka ntchito za nucleoprotein. Osadziwa kokha zomwe zimayambitsa matenda a chromosomal, komanso zinthu zomwe zingathe kusonyeza kusintha kwa thupi. Phindu liri:

• zizindikiro za zosokonezekazo;
• genotype wa zamoyo;
• mtundu wa vuto;
• kukula kwa zosowa kapena mavitamini owonjezera (ndi chisokonezo);
• mlingo wamakono opangidwa ndi maselo a zamoyo (maselo okhawo omwe asokonezeka mu kapangidwe ka ntchito kapena machitidwe amalingalira).

Chromosomal Matenda - Lembani

Chaka chilichonse, amasinthidwa ndi mayina atsopano - matendawa amafufuzidwa nthawi zonse. Poganizira zomwe matenda a chromosomal, otchuka lero ndi awa:

1. Down Syndrome. Zimayamba chifukwa cha trisomy. Izi zikutanthauza kuti m'maselo muli magulu atatu a chromosome 21 m'malo mwa awiri. Monga lamulo, dongosolo "losayerekezereka" limasamutsidwa kwa mwana wakhanda kuchokera kwa mayi.
2. Matenda a Klinefelter. Matenda a chromosomal samapezeka nthawi yomweyo atabadwa, koma atangotha ​​msinkhu. Chifukwa cha kusokonekera uku, amuna amalandira kuchokera ku chimodzi kapena zitatu X chromosomes ndikutaya mwayi wokhala ndi ana.
3. Myopia. Myopia ndi kupotuka kwa chibadwa, chifukwa chomwe chithunzicho chimapangidwira osati kumene chiyenera kukhala - pa retina la diso - koma kutsogolo kwake. Chifukwa chachikulu cha vuto ili ndi kuwonjezeka kwa diso lalitali.
4. Sinthani khungu. Makhungu osiyanitsa sangathe kusiyanitsa mitundu imodzi kapena mitundu yomweyo. Chifukwa - mu chromosome "yopanda pake" X, yomwe imalandira kuchokera kwa mayi. Mu kugonana kolimba, kusokonekera uku kumachitika kawirikawiri, chifukwa kwa amuna, X imangokhala imodzi, komanso "kukonza cholakwika" - monga momwe zimachitikira zamoyo zazimayi - maselo awo sangathe.
5. Hemophilia. Matenda a chromosomal angasonyezedwe ndi kuphwanya magazi coagulability.
6. Migraine. Nthendayi, yomwe imawonetsedwa ndi ululu wopweteka pamutu, imalandidwanso.
7. Cystic fibrosis. Chifukwa cha matendawa ndi kuphwanya ziphuphu zapinsinsi. Anthu omwe ali ndi matendawa amavutika ndi thukuta lochulukirapo, amakhala osiyana kwambiri ndi ntchentche, kumakhala ndi thupi komanso kusokoneza bwino mapapu.

Njira zothandizira matenda a chromosomal

Kuyanjana kwa mafuko, monga lamulo, funani thandizo kuchokera ku njira zotere:

1. Mafuko. Ndiko kusonkhanitsa ndi kusanthula chidziwitso kwa odwala. Njira imeneyi imathandiza kuti mudziwe ngati matendawa ndi olowa ndipo, ngati zili choncho, mudziwe mtundu wa cholowa.
2. Matenda osamalidwa. Amadziwikiratu zovuta za mwana yemwe ali m'mimba pa nthawi ya masabata 14-16 a mimba. Ngati zovuta mu amniotic madzi zimadziwika ndi autosomes, kuchotsa mimba kungapangidwe.
3. Chisinthiko. Ankazindikiritsa syndromes ndi zolakwika.
4. Zachilengedwe. Amamveketsa matendawa ndipo amathandiza kudziwa majeremusi osinthika.

Kuchiza kwa matenda a chromosomal

Mankhwala samathandiza nthawi zonse kuthetsa matendawa, koma amatha kuchepetsa. Chromosomal zovuta za mwana wakhanda zimagwiritsidwa ntchito motere:

1. Dietotherapy. Amafuna kuwonjezera kapena kuchotsedwa ku zakudya za zinthu zina.
2. Mankhwala osokoneza bongo. Amagwiritsidwa ntchito kutsogolera njira za mavitamini.
3. Chithandizo cha opaleshoni. Amathandiza kuthana ndi zofooka za mtima zomwe zimabadwa , zofooka zosiyanasiyana za mafupa ndi zofooka.
4. Chithandizo cha m'malo. Zomwe zimapangidwa ndizobwezera zomwe sizipangidwa mthupi mwachindunji.

Chiwerengero cha matenda a chromosomal

Kawirikawiri, vuto lachilendo la munthu limapezeka mu zipangizo zomwe zimapezeka chifukwa cha kuchotsa mimba mwadzidzidzi zomwe zinapangidwa mu trimester yoyamba. Nthawi zambiri kuphwanya kwa anthu sikulondola ndipo ndi pafupifupi 1%. Ana omwe ali ndi vuto lachibadwa akhoza kubadwanso ndi makolo abwino. Atsikana obadwa kumene ndi anyamata, monga momwe amachitira zachipatala amasonyeza, amakhudzidwa ndi matenda a chromosomal omwe ali ndi chiwerengero chomwecho.