Aneuploidy - ndi ... Aneuploidy: malongosoledwe osiyanasiyana, zizindikiro, ndi mtundu wa mankhwala

Aneuploidy - matenda majini imene maselo mthupi muli nthenda nambala DNA. Kuti mudziwe zambiri zokhudza kusonyeza aneuploidy nanga zimayambitsa, mwachidule yosanthula kapangidwe ka selo la moyo, phata selo ndi DNA okha.

A pang'ono chiphunzitso

Monga mukudziwa, mu yonse yochepetsetsa somatic cha thupi labwinobwino 46 DNA, kuti ndi diploid. Only maselo nyongolosi khalani ichi limodzi. DNA ili mu phata selo ndi nthawi, skompaktizovannuyu DNA helix. DNA, nayenso wapangidwa monomers - polypeptides. Ena polypeptide ndondomeko amakhazikitsa jini - structural unit wa chibadwa. DNA muli pulogalamu onse majini chitukuko cha chamoyo.

Maselo nonsexual lililonse khromozomu ndi magazi mlongo DNA ofanana kwambiri, koma si ofanana ndi oyamba. Pa meiosis ndi DNA kusinthitsa zigawo. zodabwitsazi amatchedwa "kusinthanitsidwa." Lakutali khromozomu yaitali ndi waufupi manja.

khromozomu akonzedwa

Ikani DNA a chamoyo amatchedwa karyotype. Mwachibadwa, munthu, monga zanenedwa, kwa karyotype limaoneka DNA 46, 23 kuchokera ku kholo lililonse, koma anapeza anomaly imene karyotype ikuyimiridwa mosiyana. kuphwanya limeneli limatchedwa "aneuploidy".

Aneuploidy - mtundu wa karyotype imene topangira DNA si wolingana ndi zabwinobwino. Aneuploidy DNA, imene palibe khromozomu wina wotchedwa monosomy. Ngati palibe nthunzi - nullisomiey. Ngati, m'malo awiri yachibadwa DNA magazi mu karyotype pamaoneka atatu magazi, trisomy izi. kusintha topangira DNA amachititsa aakulu matenda kakulidwe. Ena a iwo akhoza kukuphani.

Aneuploidy nonsexual DNA (autosomes)

Pali matenda ambiri majini kuti amayambitsa aneuploidy. Zitsanzo za matenda amenewa - syndrome Down ndi, matenda Patau, Edwards Syndrome. matenda onsewa amayamba ndi pamaso pa khromozomu owonjezera awiriawiri osiyanasiyana magazi. Ozerezeka - ambiri a matenda amenewa. Izo kumaonekera retardation maganizo, impairments polankhulana, kuphunzira mavuto.

Komabe, trisomy wa khromozomu 21, kamene kamayambitsa matendawa alibe mphamvu pa moyo zaka zambiri. Makalasi pa njira yeniyeni akhoza kuthandiza odwala kukwaniritsa ena bwino kuphunzira ndi socialization.

matenda ena, Patau syndrome, kumachititsanso aneuploidy. Izi aakulu kuyan'anila - zotsatira za trisomy wa khromozomu 13. Odwala kawirikawiri adzapulumuke zaka 10, oposa 80% kufa mu chaka choyamba cha moyo, ena amadwala aakulu retardation maganizo. Ana ndi matenda Patau anasonyeza microcephaly, kawirikawiri amakhala ndi matenda a mtima, corneal clouding, kugawanika m'kamwa, makutu penapake opunduka.

Chinthu chachikulu chomwe vuto Edwards ndi aneuploidy - trisomy wa khromozomu 18. Oposa 90% ya ana ndi matenda kufa kwa mtima kulephera mu chaka choyamba cha moyo, ena amadwala aakulu retardation maganizo ndi pafupifupi uneducable.

Trisomy 16 khromozomu ndi ambiri kuposa aneuploidy ina. matenda kumtundu woopsa, ndi mwana wosabadwayo amafa m'mimba pa miyezi itatu mimba.

Aneuploidy anthu akhoza kusonyeza ochepa chabe majini matenda - syndrome Varkani, trisomy wa khromozomu 8. Zizindikiro zazikulu - retardation maganizo, kupunduka mtima, chigoba anomalies.

Aneuploidy DNA kugonana

Mtundu wa aneuploidy, zomwe si nthawi zonse zotsatira zoipa kwambiri - chifukwa trisomy X khromozomu. Chotero kuphwanya ali yekha kwa akazi. Trisomy X-khromozomu zimakhalanso kawirikawiri - pa 0.1% ya akazi. Matendawa akhoza kuwonetsera moyo, amene amapezeka pafupifupi 30% ya milandu. Kwa otsala 70% chidwi amakhala ndi zizindikiro izi: matendawa, agraphia, malankhulidwe ndi matenda kuyenda. Ntchito Zikatero, mankhwala symptomatic othandiza kwambiri ndipo amathandiza kuti kwathunthu kapena pang'ono kuthetsa zizindikiro zimenezi.

anomalies ena amagwirizana ndi topangira DNA kugonana zofunika kwambiri. Zikuphatikizapo Shereshevskoro syndrome - Turner, nkhani yapadera ya aneuploidy, imene mu karyotype akazi - chimodzi chokha X khromozomu mmalo mwa yachibadwa awiri. Zizindikiro - retardation maganizo, aafupi, mkhutu chitukuko cha ziwalo zoberekera kungakhale mawonekedwe ofatsa a retardation maganizo.

Pali matenda ena aakulu, amene amayamba ndi aneuploidy. Iwo Klinefelter syndrome - pamaso pa chimodzi kapena zingapo owonjezera X kapena Y DNA amuna. Zizindikiro sizimaoneka mpaka chiyambi cha unamwali. Pafupifupi theka la anthu odwala zizindikiro mu moyo wawo pamene ena anati gynecomastia, kunenepa, osabereka. Nthawi zina, pali maganizo retardation.

Zimayambitsa aneuploidy

Aneuploidy kumachitika chifukwa chakuti pa meiosis ndi DNA magazi si zogawanika, ndipo mmalo mwa mmodzi mwa gamete kumalondolera awiri DNA, kapena alibe palibe. Ngati gamete yachibadwa chiwerengero DNA, ndi zina - nthenda, nthenda karyotype zygote adzatero.

Chosagawanika magazi DNA kungakhale chifukwa sinali bwino zachilengedwe, kukhudzana ndi poizoni wa chikhalidwe chosiyana. Koma nthawi zambiri chifukwa ndi chibadwa: m'mabanja pakhala milandu aneuploidy, chiopsezo ndi mwana ndi karyotype nthenda ndi apamwamba kuposa makolo wathanzi.

pafupipafupi

Tikhoza kunena kuti chiopsezo zoyambirira za chromosomal aneuploidy-matenda pafupifupi zachepa, kuyambira matenda onse majini anawagawira monga osowa. Mwina chachikulu ndi mwana ndi chosayenerera karyotype masamba 5% ngati makolo onse athanzi. Ngati kholo limodzi ali karyotype aliyense nthenda, Mwina wodwala ukuwonjezeka mwana kubadwa.

aneuploidies pafupipafupi zimadalira khromozomu lapansi. Ambiri chosayenerera karyotype - syndrome Klinefelter a, khromozomu aneuploidy kugonana pafupipafupi 1 mu 500 anyamata akhanda kwambiri kawirikawiri - Varkani syndrome, aneuploidy wa khromozomu 8, pafupipafupi 1:50 000.

chithandizo

aneuploidies chithandizo nthawi zonse symptomatic. Pamene Shereshevscky syndrome - Turner akuti kukula otsika ndi kusowa mahomoni kugonana mkazi, chifukwa chakuti mankhwala ntchito anabolic mankhwala.

Pansi ndi matenda chithandizo yafupika maphunziro ndi odwala ndi zochitika zapadera umalimbana chitukuko cha luso chidziwitso.

Odwala matendawa Varkani kawirikawiri mogwirizana ndi zaka 20. M'kupita kwa nthawi, kusintha latsopano anatomical, mwapang'onopang'ono maganizo retardation. Ngati ndi kotheka, amayamba kuchitidwa opaleshoni chikhalidwe ndi chithandizo cha contractures msana.

Ngati atsikana trisomy X-khromozomu pali kuchedwa chitukuko kulankhula, angafunike kukaonana ndi mawu dokotala. Mu nkhani ya mavuto ndi kulemba ndi kuwerenga tiyenera kuona matendawa katswiri.

Klinefelter syndrome si nthawi zonse bwanji khalidwe la moyo odwala. Nthawi zina, pali maganizo retardation. Malinga ndi digiri yake (ofatsa, odziletsa, aakulu), pulogalamu munthu kuphunzira. Ngati gynecomastia kuwonetseredwa, utachepa ntchito kugonana, osabereka, ndiye anadza mankhwala timadzi.

diagnostics

Kupeza yoopsa matenda majini akhoza kugwiritsa ntchito njira zosiyanasiyana (ultrasound bwinobwino amuzolengedwa zolembera njira).

Mothandizidwa ndi ultrasound angaulule matendawa wosabadwa Down anachitira siteji oyambirira chitukuko.

Non-olanda akalandire chithandizo matenda a aneuploidy ndi njira otetezedwa ndi molondola kudziŵa zotheka karyotype kuvutika. Njira yosavuta - katswiri amafufuza zidutswa DNA mwana wa magazi a mayi. Olanda matenda a aneuploidy ndi zolondola, koma amanyamula chiopsezo mimba lachibadwa, amayamba okha milandu kwambiri.

Zinthu zimene azidwala aneuploidy

maphunziro posachedwapa wasonyeza kuti pali malumikizanidwe kotsimikizika pakati pa zaka za amayi ndi Mwina ndi mwana ozerezeka, syndrome syndrome Patau kapena Edwards. Akulu mkazi, apamwamba Mwina za kubadwa kwa mwana wake ndi karyotype nthenda.

Kodi zinthu kumathandiza kwambiri chitukuko DNA kugonana aneuploidy sakudziwika. Amaganiza kuti ali ndi udindo waukulu Zikatero limabweretsa chibadwa.