Aneuploidy - a ... Aneuploidy: description, keena, calaamadaha, iyo foomka gaarka ah ee daaweynta

Aneuploidy - disorder ah hidde kaas oo unugyada jidhka oo ay ku jiraan tiro aan caadi ahayn ee koromosoomyada. Si aad wax badan oo ku saabsan sida loo mariyo aneuploidy iyo waxa ay yihiin sababaha ay u bartaan, si kooban u falanqeeyaan qaab-dhismeedka gacanta ku nool, bu'da unugga iyo naftooda koromosoomyada ah.

qayb ka mid ah aragtida ah

Sida aad ogtahay, unug kasta degaaankaaga ee jidhka bini'aadamka waa caadi 46 koromosoom, in uu yahay diploid. Kaliya ee unugyada jeermiga, set this hal. Koromosomis ku yaalaan bu'da unugga iyo waa muddo dheer, skompaktizovannuyu galool DNA. DNA, markeeda, wuxuu ka kooban yahay monomers - polypeptides. xigxiga polypeptide qaarkood dhigaya hiddo - unit dhismaha ee hiddo. DNA ku jira oo dhan barnaamijka hidaha ee horumarinta ee u shaqeeyo.

In unugyada bulse koromosoom kasta waa koromosoomyada walaashiis homologous aad u la mid ah, laakiin aan isku si ugu horreeyey. Inta lagu guda jiro meiosis koromosoomyada ka bedelan qaybaha. Tani waxay ifafaale loo yaqaan "crossover." koromosoom go'doon gacmaha dhaadheer iyo kuwa gaagaaban.

koromosoom set

Calan of koromosoomyada ee u shaqeeyo ah waxaa loo yaqaan karyotype ah. Caadi ahaan, qofka, sida la sheegay, karyotype la soo bandhigay 46 koromosoom, 23 ka waalid kasta, laakiin laga helay yaab leh kaas oo karyotype waxaa matalaya duwan. xadgudub Tan waxa loo yaqaan "aneuploidy".

Aneuploidy - nooc ka mid ah karyotype taas oo tirada koromosoomyada ma qummana in caadiga ah. Aneuploidy ee koromosoom, kuwaas oo aan lahayn mid koromosoom waxaa lagu magacaabaa monosomy. Haddii aanu jirin uumi - nullisomiey. Haddii, halkii ay labada nin caadi ah oo koromosoomyada homologous in karyotype u muuqataa saddex homologous, trisomy this. Wixii isbeddel ah ee tirada koromosoomyada sababa xanuunada koritaanka aad u daran. Qaar ka mid ah iyaga ka mid ah waxaa laga yaabaa dilaa ah.

koromosoomyada bulse Aneuploidy (autosomes)

Waxaa jira cuduro badan oo hidde in ay keeni aneuploidy. Tusaale ahaan cudurada sida - Down syndrome ee, Patau syndrome, Edwards Syndrome. All cuduradan waxaa sababa joogitaanka koromosoom dheeraad ah oo laba laba kala duwan ee homologous. syndrome Down - ugu badan ee cuduradan. Waxaa muuqato dhimaal maskaxeed, doorin ee isgaarsiinta, dhibaato waxbarasho.

Si kastaba ha ahaatee, trisomy ee koromosoom 21, kaas oo keena cudurka, saameyn ah kuma laha Filashada nolosha. Fasallada on farsamooyinka gaarka ah ayaa kaa caawin kara bukaanka gaaraan qaar ka mid ah guusha ee waxbarashada iyo barbaarinta.

cudur kale, Patau syndrome, sidoo kale wuxuu sababaa aneuploidy. Tani waxay xadgudubyo daran - natiijada trisomy ee koromosoom 13aad. Bukaan-dhif ah badbaadaan in 10 sano, in ka badan 80% dhinta sannadka ugu horreeya nolosha, kuwa kale ay dhibaatadu ka dhimaal daran maskaxda. In caruurta la Patau syndrome microcephaly muujiyay, inta badan waxay leeyihiin dhibaatooyin wadnaha, leniska corneal, dhanxanegga kala, dhegaha xoogaa ay maroorsamaan.

Sababta ugu wayn ee syndrome Edwards ee sidoo kale waa aneuploidy - trisomy ee koromosoom 18. In ka badan 90% carruurta ee qabta cudurada ku dhiman ka wadnaha ee sannadka ugu horeeya ee nolosha, kuwa kale ay dhibaatadu ka dhimaal daran dhimirka iyo ku dhawaad uneducable.

Trisomy 16 koromosoom badan yahay ka badan aneuploidy kasta oo kale. Tani isirkiisa ah waa halis ah, ilmaha caloosha ku dhinto uurka lagu jiro saddexda bilood ee ugu horeeya uurka.

Aneuploidy in aadanuhu mariyo laga yaabaa in cudur dhif ah hidde - Varkani syndrome, trisomy ee koromosoom 8. Calaamadaha ugu weyn ee - dhimaal maskaxeed, cilladaha wadnaha, cillado lafaha.

Aneuploidy of koromosoomyada galmada

Nooca aneuploidy, taas oo aanu had iyo jeer ma keeni cawaaqib xun - waayo koromosoom trisomy X. xadgudub noocan oo kale ah waa kaliya loogu tala galay dumarka. Trisomy X-koromosoomyada waa soo noqnoqda - at 0.1% haweenka. Cudurku laga yaabaa in aanay muuqan nolosha, taas oo ku dhacdaa ilaa 30% ee kiisaska oo dhan. Waayo haray danta 70% waxa lagu gartaa calaamadaha soo socda: dysleksi, agraphia, hadalka, iyo cudura dhaqdhaqaaqa. Codsatay in kiisaska noocaas ah, daaweynta calaamadaha waa mid aad wax ku ool ah oo ka caawisaa in ay gebi ahaan ama qayb ahaan la baabi'iyo calaamadahan.

cillado kale ee la xiriira tirada koromosoomyada galmada, ilaa hadda ka sii daran yihiin. Kuwaas waxaa ka mid Shereshevskoro syndrome - Turner, kiis gaar ah aneuploidy, taas oo dumarka karyotype ah - kaliya hal koromosoom X halkii labada caadiga ah. Astaamaha - dhimaal maskaxeed, laakiinse sarajooggiisu gaaban, horumarinta yaraada oo ka mid ah xubnaha taranka waxay noqon karaan nooc sahlan ee dhimaal maskaxeed.

Waxaa jira cudur kale oo halis ah, taas oo ay sababtay aneuploidy. Waxaa Klinefelter syndrome - joogitaanka mid ama ka badan oo dheeraad ah X ama Y koromosoom oo ku jira ragga. Astaamaha ma muuqdaan ilaa bilowgii qaangaadhnimada. Ku dhowaad kalabar dadka bukaanka ah ma laha astaamo noloshooda oo dhan, halka kuwo kale lagu arkay gynecomastia, cayilka, dhalmo la'aan. Marar dhif ah, waxaa jira waxyeello maskaxda.

Sababaha aneuploidy

Aneuploidy dhacaa sabab u tahay xaqiiqda ah in inta lagu guda jiro meiosis ku koromosoomyada homologous ma kala, oo meeshii ay mid ka mid ah gamete ku dhuftay labo ka mid ah koromosoomyada, ama midkoodna ma helay. Haddii tiro gamete caadiga ah ee koromosoom, oo tan kalena waxay - aan caadi ahayn ka, saygoot karyotype aan caadi ahayn doono.

koromosoomyada homologous Ciddi sabab u noqon kara xaaladaha deegaanka allifey, gaadhista sunta ee dabiiciga ah oo kala duwan. Laakiin inta badan sababta waa hiddo: qoysaska halkaas oo waxaa jiray kiisas of aneuploidy, halista ah ee haysta ilmo qaba karyotype aan caadi ahayn uu ka badan yahay in waalidiinta caafimaad.

inta jeer

Waxaan dhihi karnaa in khatarta aasaasiga ah ee koromosoomyada aneuploidy-cudurka celcelis ahaan waa yar yahay, tan iyo dhammaan cudurada hidde waxaa loo kala saaraa dhif. itimaalka guud ee haysta ilmo qaba karyotype aan caadi ahayn ka dhigeysa 5% haddii labada waalidba waa caafimaad. Haddii hal waalid uu leeyahay wax karyotype aan caadi ahayn, jaaniska ilmaha dhalashada kor u buka.

inta jeer aneuploidies ku xiran tahay koromosoomyada ah. The karyotype ugu badan aan caadi ahayn - Klinefelter ee syndrome, koromosoomyada galmada aneuploidy, inta jeer ee 1 500 wiilasha dhasha, ugu dhif - Varkani syndrome, aneuploidy ee koromosoom 8, inta jeer ee 1:50 000.

daaweynta

daaweynta aneuploidies had iyo jeer waa astaamaha. Marka Shereshevscky syndrome - Turner ayaa sheegay in koritaanka yar yahay iyo la'aanta ah ee hormoonnada jinsiga ee dumarka, maxaa yeelay daaweynta loo isticmaalo steroids dhiska.

daaweynta syndrome Down ayaa hoos u dhigay cilmiga la bukaanka qaba barnaamijyo gaar ah loogu talagalay horumarinta kartida garashada.

Bukaanka qaba syndrome ee Varkani dhif ah ku nool yihiin ilaa 20 sano. Waqti ka, isbedelka jidh cusub, dhimaal maskaxeed horusocod ah. Haddii loo baahdo, miciinka in qaliin si loo saxo xaaladda iyo daaweynta contractures dhabarta.

Haddii gabdhaha la trisomy X-koromosoom jiro dib u dhac ah horumarinta hadalka, waxaa laga yaabaa in u baahan tahay inaad la tashato speech therapist a. In case of dhibaatooyin la xiriira qoraalka iyo akhriska waa in ay arkaan dyslexia takhasus leh.

Klinefelter syndrome had iyo jeer ma saameyn tayada nolosha ee bukaanka. Marar dhif ah, waxaa jira waxyeello maskaxda. Iyadoo ku xiran ay degree (khafiif ah, dhexdhexaad ah, oo daran), barnaamij u gaar ah oo waxbarasho. Haddii gynecomastia Cad, hoos shaqada galmada, dhalmo la'aan, ka dibna billaabeen inay therapy hormone.

Baadhista xanuunada

Aqoonsiga cudurrada hidde uurjiifka la isticmaalayo karaa qaabab kala duwan (baaritaan ultrasound, habka calamado lagmamaarmaanna).

Iyada oo taageero ka ultrasound daaha ka Down ee ilmaha caloosha ee syndrome marxalad hore ee horumarinta.

baaritaanada hooyada Aan-faafin of aneuploidy waa hab ammaan ah oo sax ah go'aaminta ee aan caadi ahayn karyotype suurto gal. Habka ugu waa mid fudud - takhasus u leh baarayaa jajabkii DNA ilmaha ee dhiigga hooyada. cudurka faafa ee aneuploidy waa sax, laakiin waxuu xanbaarsan yahay khatarta ah ee dhicinta lama filaanka ah, miciinka in ay kaliya xaaladaha khatarta ah.

Arrimaha kordhiya suurtagalnimada of aneuploidy

Baaritaanadii u danbeeyay ayaa la xaqiijiyay in uu jiro xiriir ka dhexeeya da'da hooyada iyo jaaniska ah isagoo ilmo qaba Down syndrome, syndrome Patau ee syndrome ama Edwards. The naagta ka weyn, sare u jaaniska dhalashada ee ilmaha la karyotype aan caadi ahayn.

Waa maxay waxyaabaha ka ciyaaraan door muhiim ah horumarinta koromosoomyada aneuploidy galmo la aqoon. Waxaa la malaysan in doorka muhiimka ah ee Xaaladaha noocaas ah waxaa iska leh hiddo.