Aneuploidy - he ... Aneuploidy: ano, ke kumu, symptoms, a me na hana ano o ka lapaau

Aneuploidy - he aaiaoe kāna hana i loko o i ke kino o ka aeee pihaʻi me ka'āno'ē helu o chromosomes. E aʻo hou aku e pili ana pehea e hoike aneuploidy a me ka aha i kona kumu, pokole kālailai i ka 'ole o ka halepaahao e ola ana, i ka halepaahao nucleus a me na chromosomes lakou iho.

A wahi o ke kumumanaʻo

E like me ko oukou ike ana, ma na somatic aeea o ke kanaka kino e maʻamau 46 chromosomes, i mea diploid. Wale i loko o germ keena, keia hookahi huapalapala. Chromosomes i aia i loko o ka halepaahao nucleus, a ua lōʻihi, skompaktizovannuyu DNA helix. DNA, ma ka huli, ua i mai o monomers - polypeptides. Kekahi polypeptide kaʻina nā pūʻulu'ōewe - mall pa alima o nā kūpuna mai. DNA kekahi mau mea a pau i ka aaiaoe polokalamu o? Acaeoey o ka meaola.

Ma nonsexual keena kēlā me kēia chromosome mea homologous kaikuahine chromosomes mea i like loa, akā,ʻaʻole'ālike i ka mea mua. Ma meiosis na chromosomes haawi aku i na pauku. O kŰia ua kapaia "crossover." Ke kaʻawale chromosome loa a me ka pōkole i na mea kaua.

chromosome huapalapala

E hoʻopaʻa i ka chromosomes o ka meaola ua kapaia he karyotype. Maʻamau, he kanaka, e like me ka ua, ua i mai la, i ka karyotype ua hōʻike 46 chromosomes, 23, mai kela a me keia makua, akā, loaʻa he anomaly ma i ka karyotype ua poe okoa. Kēia 'aʻe' Ua kapaia "aneuploidy".

Aneuploidy - he ano o ka karyotype ma i ka helu o ka chromosomes mea,ʻaʻole like me ka mea maʻamau. Aneuploidy o chromosomes, ma a ole i kekahi chromosome ua kapaia monosomy. Inā he mea ole mahu - nullisomiey. Inā, ma kahi o ka maʻamau paʻa o homologous chromosomes i loko o ka karyotype 'ōili mai ekolu homologous, keia trisomy. Kekahi loli ma ka helu o nā chromosomes ke kumu no ka wi developmental kāna hana. Kekahi o ia i e ona.

Aneuploidy nonsexual chromosomes (autosomes)

He nui aaiaoe maʻi e hooua iho aneuploidy. 'O kekahi mau maʻi - Down ka maʻi pale, Patau maʻi pale, Edwards maʻi pale. mau mai a pau i kauohaʻia e ke alo o ka keu chromosome i loko o kekahi hui o homologous. Down maʻi pale - ka loa, he pono ole o kēia mau maʻi. Ua hoike mai ai ia ia iho, noʻonoʻo retardation, impairments ma ka palapala, aʻo pilikia.

Eia naʻe, trisomy o chromosome 21, i ke kumu o ka maʻi,ʻaʻohe ia ma luna o ke ola expectancy. Classes i ho'ākāka 'ana i kūpono ke kōkua e hoomanawanui i kū ai kekahi pomaikai nui ma ka hoʻonaʻauao a me ka socialization.

Kekahi maʻi, Patau maʻi pale, kekahi kumu no aneuploidy. Kēia hanahana loa aʻe '- i ka hopena o ka trisomy o ka chromosome 13th. E hoomanawanui i kākaʻikahi ola i ka 10 makahiki, oi ma mua o 80% make i loko o ka makahiki mua o ke ola, 'ē aʻe e ae mai ka loa noʻonoʻo retardation. Ma na keiki me Patau maʻi pale i olelo ia microcephaly, pinepine naau pilikia, corneal clouding, mahae kīleo, pepeiao kekahi ino i.

I ka papa kuhikuhiE kumu o ka maʻi pale Edwards mea i aneuploidy - trisomy o chromosome 18. More ma mua o 90% o nā keiki i kēia maʻi make mai ka naau ole i loko o ka makahiki mua o ke ola, 'ē aʻe e ae mai ka loa noʻonoʻo retardation a me kaʻaneʻane uneducable.

Trisomy 16 chromosome mea oi, he pono ole ma mua o kekahi 'ē aneuploidy. Kēia aaiaoe kāna hana mea lethal, ka fetus e make i loko o ka opu o ka malama ekolu o ka hāpai keiki mua iloko o.

Aneuploidy i kānaka e hoike i ke nānā aaiaoe maʻi - Varkani maʻi pale, trisomy o chromosome 8. Na ka papa kuhikuhiE symptoms - noʻonoʻo retardation, naau mā, skeletal anomalies.

Aneuploidy o anal chromosomes

Kind o aneuploidy, a 'aʻole i mau alakai i ka mea hopena - no ka trisomy X chromosome. Oia ka 'aʻe' ka wahine wale no. Trisomy X-chromosome, kŘpa a pinepine - ma 0,1% o na wahine. Ka maʻi hiki ole hoike ma ke ola, i ia lŘlŘ ma kahi o 30% o ka hihia. No ka mea i koe, 70% hoihoi ua wehewehe aku ma ka kēia symptoms: dyslexia, agraphia, ka olelo, a me ka neʻeʻana o kāna hana. Pili i loko o ia hihia, symptomatic lapaʻau ka loa pono, a kōkua iā ihola ia a hapa 'ia' hoʻopau i kēia mau symptoms.

Other anomalies pili i ka helu o ke keka chromosomes, ua mamao loa aku hoʻoponopono. Mau nā Shereshevskoro maʻi pale - Turner, he kūikawā hihia o ka aneuploidy, ma i loko o ka karyotype wāhine - wale kekahi X chromosome kahi o ka maʻamau elua. Symptoms - noʻonoʻo retardation, pōkole ke kino o Iesu, hoʻopōʻino kūpono 'ana o ka wahine nā loko hiki ia i ka mehana' ano o ka noʻonoʻo retardation.

Aia i kekahi maʻi nui, a ua kauoha aku ma ka aneuploidy. It Klinefelter maʻi pale - i ke alo o kekahi a oi keu X a Y chromosomes i loko o nā kānaka. Symptoms mai i ikeia, a hiki i ka hoomaka ana o ka puberty. Kokoke ka hapalua o nā mea maʻi mai,ʻaʻole i symptoms ma ko lakou mau ola, oiai kekahi poe malama gynecomastia, obesity, infertility. Ma pohihihi keia hihia, he mea noʻonoʻo retardation.

Nā kumu o ka aneuploidy

Aneuploidy ia lŘlŘ aie i ka mea i i meiosis ka homologous chromosomes mai i Wāwahi mai, a me kahi o kekahi ma ka gamete ku i ka mau o ka chromosomes, a ua i loaa i kekahi. Inā he gamete maʻamau helu o chromosomes, a me ka mea 'ē aʻe - ka'āno'ē, ka'āno'ē karyotype zygote makemake.

Undivided homologous chromosomes hiki e ukuia i noho lakou malaila? Aneie rula, waiū i toxins o kekahi ano. Akā, pinepine ke kumu o nā kūpuna mai. I loko o nāʻohana a pau ma laila i noho hihia o aneuploidy, ka pilikia o ka loaa i ke keiki me ka'āno'ē karyotype mea oi aku ma mua i ke ola makua.

alapine (frequency)

Mākou ke i aku nei au i ke kumu o pilikia o ka chromosomal aneuploidy-maʻi ma awelika mea haʻahaʻa, no ka mea e hoʻolaha aaiaoe maʻi a pau e like me ka pohihihi. Ka pono pahiki o ka ke keiki me ka abnormality karyotype lau 5% ina na na makua e ola. Inā kekahi makua i kekahi'āno'ē karyotype, ka pahiki o ka maʻi keiki hanau, piʻi pū.

aneuploidies alapine (frequency) hilinaʻi nui ma luna o ka chromosome. Ka loa, he pono ole abnormality karyotype - Klinefelter ka maʻi pale, chromosome aneuploidy ke keka, alapine (frequency) o 1 i loko o 500 keiki kāne, ka loa pohihihi - Varkani maʻi pale, aneuploidy o chromosome 8, i ke alapine (frequency) o 1:50 000.

lapaʻau

aneuploidies lapaʻau He mau symptomatic. A lohe o Shereshevscky maʻi pale - Turner nei haʻahaʻa ulu, a me ka nele i ka wahine ke keka hormones, no ka mea, o ka iapaau ana hoʻohana lāʻau anabolic steroid i.

ua hoemi ia haʻawina Down ka maʻi pale lapaʻau me nā mea maʻi me ka kūikawā papahana nona ma ka hooulu ana o cognitive nā mea hiki.

Nā mea maʻi i ka maʻi pale Varkani kākaʻikahi ola mai i ka 20 makahiki. Over manawa, hou anatomical loli, e holumua ai noʻonoʻo retardation. Inā pono, ma laila eʻoki kino, e hooponopono i ke kulana a me ka lapaau ana o ka spine contractures.

Inā kaikamahine me ka trisomy X-chromosome he mea he kali hou aku; o ka olelo? Acaeoey, e pono e nīnau aku i ka olelo ana kino. I Ina o ka pilikia a me ke kākau 'ana a me ka heluhelu ana e ike i ka hoʻomalu dyslexia.

Klinefelter maʻi pale mai i mau pili i ka pono o ke ola no nā mea maʻi. Ma pohihihi keia hihia, he mea noʻonoʻo retardation. Ke kaumaha ma muli konaʻano (mehana, lōpū, loa), he kanaka polokalamu o ka mahele. Inā hoikeia gynecomastia, ua hoʻemi moe hana, infertility, laila, io i ka hōmona Inc.

lapaʻau '

E kuhikuhi i fetal aaiaoe maʻi hiki ke hoʻohana i keʻano o kāu kiʻina hana (ultrasound keia hookolokolo ana, biochemical hōʻailona iaoia).

Me ke hoike aku i ka fetus Down ka maʻi pale ma kekahi kakahiaka nui ke kahua o ka? Acaeoey ke kōkua o ke ultrasound.

Ole-invasive prenatalʻike, o ka aneuploidy o ka palekana a me ka pololei iaoia o hoomaopopo ana i ka hiki karyotype abnormalities. Ka papa hana Ua puni hoʻi - he hoʻomalu ninaninau DNA koena ai o ke keiki i loko o ke koko o ka makuahine, o ka. Invasiveʻike, o ka aneuploidy Ua oi pololei, akā, e hāpai i ka pilikia o ka noho'na makaainana i ulu abortion, ma laila i ka mea wale nō i loko o loa hihia.

Makaʻu e hoomahuahua i ka likelihood o aneuploidy

Nā haʻawina Ua maopopo ia mea, he definite mea hoʻopili ma waena o maternal makahiki a me ka pahiki o ka ke keiki me Down maʻi pale, maʻi pale Patau ka maʻi pale a Edwards. Ka mua i ka wahine, i ke kiekie o ka pahiki o ka hanau ana o kana keiki me ka'āno'ē karyotype.

He aha kumumea pāʻani i keʻano nui kūlana i loko o ka ulu ana o ka aneuploidy ke keka chromosomes mea IKE OLE IA. Ua Ua ea ae ka hana i ke ki kūlana i loko o ia mau manawa e pili ana i nā kūpuna mai.