Matenda Chromosomal - kudwala, potsata masinthidwe

Mlingo makono a chitukuko cha mankhwala wasonyeza kuti kutengera za matenda ena kapena pakutchulidwa matenda pa m'badwo uliwonse zikhoza kukhala chifukwa chibadwa, kapena kugonjetsedwa kwa makolo cholowa chuma (DNA kusintha). Kuti tsiku ndi kutsimikiziridwa kuti matenda chromosomal akhale chifukwa cha matenda ziwalo zosiyanasiyana ndi machitidwe thupi, kwakukulu ndi matenda kumatengera zifukwa zambiri.

matenda Chromosomal - "kumwamba" chilango kapena zimakhudzira chilengedwe?

Zimayambitsa mtundu wa matenda ndi matenda a dongosolo DNA payekha kapena kusintha kuchuluka. Masinthidwe zimene zimachititsa anthu chromosomal matenda kumachitika maselo nyongolosi ya makolo (Pankhaniyi kusintha adzakhala kuzindikiridwa maselo mbadwa zonse za thupi) kapena mu magawo m'banda chitukuko embryonic. Mu nkhani iyi, kusintha chibadwa kuphunzira Baibulo kuonedwa okha ena maselo - mosaicism amapezeka. Popereka kuyan'anila zinthu zambiri zimadalira mfundo imene panali imfa DNA makolo, ndi mmene kutchulidwa kusintha.

Chilema DNA kumachitika mu DNA kugonana ndi autosomes, ndi zoona, anthu awiri onsewa n'zotheka kusintha (masinthidwe) komanso kusintha kuchuluka - kuchepa kapena kuchuluka kwa onyamula mudziwe cholowa. Ambiri matenda chromosomal amenewo akukantha mawonetseredwe matenda, ndipo pali kusiyana pakati pa matenda amene amagwirizana ndi zotupa za autosomes ndi kugonana khromozomu kusintha. Mbali yoyamba ya matenda chithunzi cha matenda umboni m'masiku oyambirira a moyo wa ana akhanda, pamene kudwala DNA kugonana akhoza momveka bwino akuwonetseredwa okha kwa nthawi yomwe akutha msinkhu wa mwanayo.

Zimayambitsa matenda chromosomal

Nthawi zambiri chifukwa cha masinthidwe chromosomal amakhala zoyipa za zoipa zinthu zachilengedwe pa maselo nyongolosi ndi chuma majini ali m'bukuli. zinthu sichikupindulitsani kungakhale ionizing dzuwa, mkulu ndi otsika kutentha, wothandizila mankhwala, kuphatikizapo mankhwala, wothandizila tizilombo, komanso kusintha kagayidwe makolo zamoyo.

Pamene karyotype n'kofunika?

Iwo imatsimikizirika kuti kusintha maselo nyongolosi zingaunjikane msinkhu, nchifukwa chake "m'badwo" wa makolo kulera kapena pa kuonerera pa mimba kwenikweni anatumiza uphungu chibadwa. Kumafuna khromozomu maphunziro (karyotype kuphunzira makolo mtsogolo) mu mimba padera ndi stillbirths, komanso kufufuza zofunika mu choncho, ngati dotolo akuganiza kuvutika aliyense chromosomal mwa mwanayo.

Mlingo makono a chitukuko cha mankhwala wasonyeza kuti mmodzi ndi yemweyo matenda chromosomal ingayambe monga kusintha topangira DNA ndi khromozomu rearrangements mu gulu linalake. matenda Mawuwa amatanthauzanso ozerezeka, amene angatchedwe monga ponso (trisomy awiriawiri 21 DNA), ndi kuika pa "owonjezera" 21 khromozomu awiriawiri kwa ena. Pankhaniyi, kuphunzira pamaso pa ana m'banja ndi kudwala pamajini amathandiza kuneneratu imabwera mwana wathanzi.

matenda Chromosomal - kodi n'zotheka kuchiza?

Dokotala aliyense amene ali kuthana ndi matenda aliwonse chromosomal, kuwawa kuvomereza kuti mankhwala kwakukulu odwala sizingatheke. N'chifukwa chake kugonjetsedwa kwa autosomes unachitikira mankhwala symptomatic, cholinga okha mmene yaing'ono, azilipira matenda osauka. Mulimonsemo, odwala zimapezeka zopindika angapo, kuphatikizapo retardation maganizo, kupunduka a dongosolo mtima, kusintha aakulu kagayidwe lapansi.

Akunde kugonana DNA Mwachitsanzo, trisomy wa khromozomu X, kungaonekere yekha atsikana pa kufika zaka msinkhu. Pamene matenda ali osowa malformations aakulu ndi matenda zosiyanasiyana kugonana zimachitika kumlingo akhoza kulipidwa mankhwala m'thupi. Muyenera kumvetsetsa kuti mankhwala uyu alibe zotsatira pa zida cholowa cha khungu (a DNA okha), koma amathandiza kulimbana ndi kupatuka pa udindo thupi ndi maganizo a anthu odwala.