Aneuploidy - a ... Aneuploidy: nkọwa, na-akpata, ihe mgbaàmà, na karịsịa ụdị ọgwụgwọ

Aneuploidy - a mkpụrụ ndụ ihe nketa aghara na nke ahu na mkpụrụ ndụ nke nwere ọrịa ntutu ịdapụsị nọmba nke chromosomes. Iji mụtakwuo banyere otú na-egosipụta aneuploidy na ihe bụ ya na-akpata, na nkenke nyochaa Ọdịdị nke a ndụ cell, na cell ntọala na chromosomes onwe ha.

A bit nke ozizi

Dị ka ị maara, ọ bụla somatic cell nke ahụ mmadụ na-nkịtị 46 chromosomes, ya bụ diploid. Naanị na izizi mkpụrụ ndụ, nke a otu set. Chromosomes-emi odude ke cell ntọala na na-ogologo, skompaktizovannuyu DNA helix. DNA, n'aka nke ya, na-mejupụtara monomers - polypeptides. Ụfọdụ polypeptide usoro esetịpụrụ site n'usoro - bughi unit nke si n'aka ruo n'aka. DNA nwere niile mkpụrụ ndụ ihe nketa usoro nke mmepe nke organism.

Na nonsexual mkpụrụ ndụ ọ bụla chromosome bụ homologous nwanne chromosomes yiri nnọọ, ma ọ bụghị yiri ka nke mbụ. N'oge meiosis na chromosomes agbanweta ngalaba. Nke a na onu a na-akpọ "crossover." The dịpụrụ adịpụ chromosome ogologo na obere ogwe aka.

chromosome set

Nịm nke chromosomes nke organism a na-akpọ a karyotype. Nọmalị, a onye, dị ka e kwuru, ndị karyotype na-dị 46 chromosomes, 23 onye ọ bụla nne na nna, ma chọpụtara ihe anomaly nke karyotype na-anọchi anya dị iche iche. Nke a mebiri na-akpọ "aneuploidy".

Aneuploidy - a ụdị karyotype nke ọnụ ọgụgụ nke chromosomes bụghị hà nkịtị. Aneuploidy nke chromosomes, nke na ọ dịghị onye chromosome a na-akpọ monosomy. Ọ bụrụ na e nweghị uzuoku - nullisomiey. Ọ bụrụ na, kama nkịtị ụzọ homologous chromosomes na karyotype egosi atọ homologous, a trisomy. Mgbanwe ọ bụla na ọnụ ọgụgụ nke chromosomes akpata oké otito ọrịa. Ụfọdụ n'ime ha nwere ike ịbụ na-egbu egbu.

Aneuploidy nonsexual chromosomes (autosomes)

E nwere ọtụtụ mkpụrụ ndụ ihe nketa ka ọrịa na-eme ka ọ aneuploidy. Ihe Nlereanya nke ndị dị otú ahụ ọrịa - Down si syndrome, Patau syndrome, Edwards ọrịa. All ọrịa ndị a na-kpatara ọnụnọ nke onye amara chromosome dị iche iche ụzọ abụọ nke homologous. Down syndrome - kasị nkịtị nke ọrịa ndị a. Ọ na-egosipụta onwe-eme iberibe, impairments na nkwurịta okwu, na-amụta ihe isi ike.

Otú ọ dị, trisomy nke chromosome 21, nke na-akpata ọrịa, enweghị mmetụta na ndu ndimmadu. Klas on kpọmkwem usoro nwere ike inyere ndị ọrịa nweta ụfọdụ ihe ịga nke ọma mmụta na socialization.

Ọzọ ọrịa, Patau syndrome, -emekwa aneuploidy. Nke a siri ike imebi - n'ihi trisomy nke 13 chromosome. Ọrịa adịkarịghị na-adị ndụ na 10 afọ, ihe karịrị 80% na-anwụ n'afọ mbụ nke ndụ, ndị ọzọ na-ata ahụhụ si na oké-eme iberibe. Na ụmụaka na Patau syndrome kwuru microcephaly, mgbe mgbe, nwere nsogbu obi, corneal clouding, gbawara n'etiti okpo ọnụ, ntị dịtụ oruru.

Isi ihe kpatara na syndrome Edwards bụkwa aneuploidy - trisomy nke chromosome 18. More karịa 90% nke ụmụaka na ọrịa a anwụ obi ọdịda n'afọ mbụ nke ndụ, ndị ọzọ na-ata ahụhụ si na oké-eme iberibe na fọrọ nke nta uneducable.

Trisomy 16 chromosome bụ karịa ihe ọ bụla ọzọ aneuploidy. Nke a mkpụrụ ndụ ihe nketa aghara bụ ihe na-ebibi, nwa ebu n'afọ na-anwụ anwụ nọ n'afọ n'oge ọnwa atọ mbụ nke afọ ime.

Aneuploidy na ụmụ mmadụ nwere ike na-egosipụta a obere mkpụrụ ndụ ihe nketa na ọrịa - Varkani syndrome, trisomy nke chromosome 8. Isi mgbaàmà --eme iberibe, obi ntụpọ, skeletal anomalies.

Aneuploidy mmekọahụ chromosomes

Ụdị aneuploidy, nke ọ bụghị mgbe nile ịkpata oké pụta - maka trisomy X chromosome. Ndị dị otú ahụ a mebiri bụ nanị maka ndị inyom. Trisomy X-chromosome dịtụ Ugboro - na 0,1% nke ndị inyom. Ọrịa nwere ike bụghị gosi ná ndụ, nke pụtara na ihe 30% nke ikpe. N'ihi na ndị fọdụrụ 70% mmasị e ji ndị na-esonụ mgbaàmà: dyslexia, agraphia, okwu, na ije ọrịa. Etinyere dị otú ahụ ikpe, symptomatic omume dị irè na-enyere aka na-ata ma ọ bụ na-ezughị ezu kpochapụ ndị a mgbaàmà.

Ọzọ anomalies jikọtara ọnụ ọgụgụ nke mmekọahụ chromosomes, dị nnọọ njọ. Ndị a gụnyere Shereshevskoro syndrome - Turner, a pụrụ iche banyere aneuploidy, nke na karyotype inyom - nanị otu X chromosome kama nkịtị abụọ. Mgbaàmà --eme iberibe, mkpụmkpụ, mkpọchị mmepe nke Genital akụkụ nwere ike ịbụ a nwayọọ ụdị echiche iberibe.

E nwere ihe ọzọ dị oké njọ ọrịa, nke e mere site aneuploidy. Ọ Klinefelter syndrome - ọnụnọ nke onye ma ọ bụ karịa extra X ma ọ bụ Y chromosomes na mmadụ. Mgbaàmà adịghị egosi ruo mgbe mmalite nke-eto eto. Fọrọ nke nta ọkara nke ndị ọrịa na-adịghị mgbaàmà n'oge ndụ ha, ebe ndị ọzọ hụrụ gynecomastia, ibu oké ibu, infertility. Na obere okwu, e nwere-eme iberibe.

Na-akpata aneuploidy

Aneuploidy emee n'ihi na eziokwu na n'oge meiosis na homologous chromosomes adịghị gbasaa, na kama onye na gamete kụrụ a ụzọ chromosomes, ma ọ bụ adịghị nwetara ọ bụla. Ọ bụrụ na a gamete nkịtị nọmba nke chromosomes, na ndị ọzọ na - na ndiiche, ọrịa ntutu ịdapụsị karyotype zaigọtụ uche.

Ekewaghi homologous chromosomes nwere ike ịbụ n'ihi na ndị ọjọọ na gburugburu ebe obibi na ọnọdụ, n'ebe nsí dị iche iche agwa. Ma mgbe ihe kpatara ya bụ si n'aka ruo n'aka: n'ezinụlọ ebe e nwere okwu ikpe nke aneuploidy, ihe ize ndụ nke nwa nwere ọrịa ntutu ịdapụsị karyotype ka dị elu karịa nke ahụ ike nne na nna.

ugboro

Anyị nwere ike ikwu na ihe ndị bụ isi ihe ize ndụ nke chromosomal aneuploidy-ọrịa na nkezi bụ ala, ebe ọ bụ na mkpụrụ ndụ ihe nketa ka ọrịa na-nkewa dị ka obere. The n'ozuzu puru nke nwa nwere ihe nhata karyotype doo 5% ma ọ bụrụ na nne na nna na-ahụ ike. Ọ bụrụ na otu nne na nna nwere ihe ọ bụla ndiiche karyotype, gbasara nke puru omume a na-arịa ọrịa na nwa nwa-abawanye.

aneuploidies ugboro na-adabere na chromosome. The kasị nhata karyotype - Klinefelter si syndrome, chromosome aneuploidy mmekọahụ, ugboro ole nke 1 na 500 ọhụrụ ụmụ nwoke, ndị kasị obere - Varkani syndrome, aneuploidy nke chromosome 8, ugboro nke 1:50 000.

ọgwụgwọ

aneuploidies ọgwụgwọ bụ mgbe symptomatic. Mgbe Shereshevscky syndrome - Turner kwuru ala ibu na a enweghị nwaanyị mmekọahụ homonụ, n'ihi na ọgwụgwọ eji anabolic Steroid.

Down si syndrome ọgwụgwọ na-ebelata ka ọmụmụ ọrịa na pụrụ iche na mmemme iji na mmepe nke cognitive ikike.

Ọrịa na syndrome Varkani adịkarịghị ndụ ruo afọ 20. N'ime oge ahụ, ọhụrụ anatomical mgbanwe, na-aga n'ihu-eme iberibe. Ọ bụrụ na ọ dị mkpa, ịgbawa na ịwa ahụ iji dozie ọnọdụ na ọgwụgwọ nke ọkpụkpụ azụ contractures.

Ọ bụrụ na ụmụ agbọghọ na trisomy X-chromosome e a na-egbu oge nke okwu mmepe, nwere ike mkpa gakwuru a okwu therapist. Bụrụ na nke nsogbu na ide ihe na-agụ ga-ahụ a ọkachamara dyslexia.

Klinefelter syndrome adịghị mgbe niile na-emetụta àgwà nke ndụ nke ndị ọrịa. Na obere okwu, e nwere-eme iberibe. Dabere na ya ruo n'ókè (nwayọọ, agafeghị oke, oké), onye omume nke ọmụmụ. Ọ bụrụ na ìhè gynecomastia, ebelata mmekọahụ ọrụ, infertility, mgbe ahụ, malitere hormone ọgwụ.

nchọpụta nsogbu

Chọpụta nwa ebu n'afọ na mkpụrụ ndụ ihe nketa ka ọrịa nwere ike iji ọtụtụ ụzọ (ultrasound nnyocha, Biochemical nrịbama usoro).

Site n'enyemaka nke ultrasound pụrụ ikpughe nwa ebu n'afọ Down si syndrome na n'oge ogbo nke development.

Non-invasive prenatal nchoputa nke aneuploidy bụ a mma na ezi usoro nke ịchọpụta na o kwere omume karyotype abnormalities. The usoro dị mfe - a ọkachamara na-enyocha DNA iberibe a nwa na ọbara nne nwa. Ịwakasị nchoputa nke aneuploidy bụ ihe ziri ezi, ma ọ na-eburu ihe ize ndụ nke n'amaghi-ete ime, na-eme ya naanị na oké ikpe.

Ihe na-amụba ohere nke aneuploidy

Adịbeghị anya nnyocha e mere egosiwo na e nwere a anya mmekọrịta dị n'etiti nne nwa afọ na ihe gbasara nke puru nke na-enwe a na nwa na Down syndrome, syndrome Patau si syndrome ma ọ bụ Edwards. The okenye nwaanyị, na elu ihe gbasara nke puru nke ọmụmụ nwa ya na ọrịa ntutu ịdapụsị karyotype.

Olee ihe ndị na-egwu a dị oké mkpa ọrụ na mmepe nke aneuploidy mmekọahụ chromosomes amaghị. Ọ na-na-eche na ndị isi ọrụ dị otú ahụ ikpe bụ nke si n'aka ruo n'aka.