Chromosomal masinthidwe: kufotokoza mwachidule ndi gulu

Ndithu amapezeka chilengedwe chodabwitsa otchedwa khromozomu masinthidwe. Iwo amagwirizana ndi kusintha kapangidwe kapena nambala ya DNA ndi kutsogolera ku pofuna kukwaniritsa zosiyanasiyana zopindika thupi. Masinthidwe DNA anawagawa structural (pali kusintha mu dongosolo awo) ndi M'ndandanda (yodziwika ndi kusintha chiwerengero DNA matupi a awiri).

Kandalama khromozomu masinthidwe. matenda, amene amagwirizana ndi chotupa ndi wotsatira zigawo kumangako DNA, chifukwa kusintha kuyambira chuma chibadwa. Iwo akhoza kukhala:

- moyenera - Pankhaniyi pali kusowa kapena owonjezera zinthu chibadwa, kotero nthawi zambiri iwo siziwoneka. Koma pali chiopsezo chachikulu cha HIV wa akonzedwa akamakonda zinthu majini mu kuswana.

- akamakonda - mu nkhani iyi, mwana wosabadwa angapo a pathologies kwambiri.

Pali njira zotsatirazi kuti kusintha mu dongosolo khromozomu:

• Deletions - chromosomal masinthidwe kuti imakhudzana ndi ulusi chromosomal yopuma ndi imfa ya mbali zofunika. kusintha kumeneku ndi zotsatira zoipa kwambiri, ndipo nthawi zina amapha.
• Duplications - masinthidwe kuti imakhudzana ndi anawaonjezera kuwirikiza kawiri wa chigawo enieni DNA, popanda kudwala kwambiri.
• Translocation - ikuchitika pa yopuma DNA zoyandikana. Chifukwa cha zimenezi, a DNA awiri kusinthitsa mayunitsi awo, n'kupanga latsopano la zinthu chibadwa.
• Insetsii - yodziwika ndi gawo kutengerapo khromozomu wina ndi mzake.
• Inversion - pamene khromozomu masinthidwe kupanga kusiyana ndi amapezeka mu malo awiri nthawi imodzi. Kenako, gawo limene lili pakati pa mipata, ndi zimayenda za olamulira ndi kusintha akuyambira chibadwa.

N'zosangalatsa kumva chromosomal masinthidwe. Monga tanenera kale, mtundu wa masinthidwe imakhudzana ndi kusintha topangira DNA. Mitundu zotsatirazi:

• Trisomy - chromosomal kusintha, amene anatsagana ndi maonekedwe mu dziwe chibadwa cha khromozomu owonjezera. Izi zimachitika ngati, pamene magawano selo, mwana wamkazi DNA si osemphana. kusintha amenewa, ndi kuvutika phenotypic. Ena trisomies zimabweretsa yoopsa imfa mu magawo oyambirira a chitukuko. Zimayambitsa masinthidwe komabe kwathunthu elucidated.
• Monosomy - chromosomal masinthidwe amene amakhala ndi kutha kwa khromozomu wina. Nthawi zambiri, monga chamoyo si yotheka, kotero akufa magawo oyambirira chitukuko embryonic.
• Poliplodiya - ndi chosowa kwambiri chodabwitsa, amene amakhala ndi kukhalapo mu khungu katatu, ndipo ngakhale quadruple ya DNA. Chamoyo olumala ngati sangathe moyo - kapena iye afa asanabadwe kapena nthawi yomweyo pambuyo pawo.
• kusintha n'zosangalatsa kumva mu DNA kugonana - chodabwitsa zofala, amene anatsagana ndi kuchuluka DNA otsiriza, 23. awiri.

Chromosomal masinthidwe: Zitsanzo

mankhwala amakono amadziwa Nthawi zambiri ana obadwa ndi zilema chromosomal. Monga tanena kale, anthu ena amene amakhulupirira chromosomal chifukwa palibe anachita kuonekera pa mbali ya thupi, ndi ena chabe sikugwirizana ndi kupulumuka. Koma pali amamudziwa matenda chibadwa, amene uka ndendende chifukwa cha kusintha zinthu chibadwa.

Mwachitsanzo, ozerezeka - trisomy 21 ndi awiri DNA. kuphwanya otere limodzi ndi kobadwa nako malformations wa mtima ndi mitsempha ya magazi, komanso mbali mu maonekedwe a munthu ndi retardation maganizo.

Patau Syndrome - trisomy pa 13 awiri. Limodzi ndi chotero chitukuko wakuswa zosayenera fupa, kusintha mu mawonekedwe a Chigaza, ndi polydactyl pa miyendo kapena manja (zala zisanu), kuphwanya dongosolo mtima ndi mantha.

Turner matenda - ndi monosomy 23 (kugonana) awiri khromozomu, chifukwa mu mwana wosabadwa wolandira mmodzi yekha X khromozomu. anthu awa pang'onopang'ono chitukuko cha ziwalo zoberekera, ndi mawu ofooka makhalidwe sekondale kugonana.