Robertsonian translocations: ano, nā hiʻona a me nā 'ano o ka

Ka holoʻokoʻa ka leo o aaiaoe mea hoohui ia ma nā mea a pau 46 hui o chromosomes. A chromosome ua ikeia mai ka kālaimeaola, i loaʻa i loko o ka halepaahao nucleus. A ola i ke kanaka i ka karyotype o ka 23 hui o diploid chromosomes. I mea 46 XX - chromosome i na wahine a me 46 XY - kāne 'ia paha o nā chromosomes. Ka wā e uhai i kekahi o ka chromosome, ke kumu o "mea nana i hali" o ka aaiaoe kivila, acee? Iuo oeiia o ka 'aʻe' ana.

Mutations mea i kū hoʻokahi ai i kānaka. Small loli ma aaiaoe mea he hoʻonui i ke 'ano o ka hoikeana o ke ano. Ma ka ai-kapaia 'O ke kaulike chromosomal translocation loli ia lŘlŘ me ka poho o ka' ike, a me ka hoʻokali kūpono 'duplication. Loa pinepine keia hana i meiosis (chromosome mahele), ma ka hou, i kekahi manawa hapa o na chromosomes iʻia i kekahi (duplication ia lŘlŘ), a laila, i ka hopena e unpredictable. Akā mākou e wale Robertsonian translocations, kā lākou mau 'ano a me ka' ole noʻonoʻo.

Robertsonian translocation - He aha ka mea? Aaiaoe pilikia o ke kanaka

Ma muli o ka rupture o ka chromosome kokoke i ka centromere ka mea, he mall loli ma ke kanaka aaiaoe kivila. Ka nahā i ke e he hoʻokahi, akā, e hana me ka hou. Kekahi lima o chromosome ma hope o kaʻoluʻolu o (IeAUPIIe, IAa IO pōkole lima) ua nalowale. Akā, e hele mai ma na hihia ma kaʻoluʻolu o ia lŘlŘ ka poʻe i loko o 2 chromosomes, pōkole lima a i swapped. I kekahi manawa, ka mea e malalo iho i ka translocation wale nō māhele o ka poohiwi. Akā, ua pōkole i na mea kaua o acrocentric chromosomes ma keʻano (ma kahi o ka centromere i hookaawale ai i ka chromosome ma luna o ka loa a me ka pōkole i na mea kaua) ike ole e lawe nui ike. Ma waho o ka lilo ana o ia mau oihana mua mea, no ka mea hereditary mea ua mānewanewa kanikau no ka mea'ē aʻe acrocentric chromosomes i ai nui.

Akā, hoʻokaʻawaleʻia ka wā o ka pōkole lima fused me ka pōkole lima o kekahi'ōewe, a me ka lōʻihi o ka i koe, ua hoi soldered i kekahi i kekahi, e like me ka translocation mea hou 'O ke kaulike. Oia "rearrangement" o aaiaoe mea - keia mea he Robertsonian translocation.

I ka noiʻi 'ana a me ka ho'ākāka' ia ma kēia 'ano o ka translocation W. Robertson i ka 1916. A Ua kapaʻia a me he anomaly i kona inoa. Robertsonian translocation ke alakai i ka ulu ana o Ka maʻi 'aʻai, akā, i ole pili i ke ano a me ka ola o ka lawe. Naʻe, i ke keiki i loko o ka hapanui hoopii, ina kekahi makua i ka translocation, hanau me ke kino kīnā.

Pehea like mutation?

Ma muli o ka hana hou i ka 'ike loea hou a me ka hooulu ana o aaiaoe? Like me ka' epekema, i kēia lā e mea hiki ke ike ma ka mua ina he mau abnormalities i loko o ka karyotype o ka unborn keiki. He manawa e hiki ke lawe mai i ka 'ikepili helu: pehea pinepine ilaila e aaiaoe anomaly? E like me kaʻikena aeaiiua, Robertsonian translocations ana i loko o kekahi mai o ke tausani keiki. Loa pinepine diagnosed translocation o chromosome 21.

Small chromosomal translocation loa he hoʻoweliweli 'ana i kona mea nana i hali. Akā, i ka wa a ka mea e loli ai nui oihana mua o ke kivila, i ke hanau make i ke keiki a make i loko o kekahi mau mahina, e like me, no ka mea hoike, i ka hihia a me ka maʻi pale Patau. Akā, Patau maʻi pale ia lŘlŘ loa kākaʻikahi. Somewhere 1 i ka 15,000 hanau.

Makaʻu ka hoʻopukaʻana i ka muli o ka translocation i loko o chromosomes

Ma ke ano maoli, he mau noho'na makaainana i ulu mutation, 'o ia hoʻi, unprovoked. Akā, i ka i hoʻolilo 'ia i kona mau ka hoʻoponopono' ana i ka ulu ana o ka genome. Mau aʻe he hoʻonui i oi pinepine mutational loli. Mau kumumea i kapaia mutagenic. Ua ikeia ma na kēia kumumea:

• ka hopena nitrogenous kumu;
• haole DNA biopolymers;
• maternal waiʻonaʻai ana i hāpai keiki;
• i ka hopena o nā mea hoʻomaʻi i hāpai keiki.

Ka loa, he pono ole translocation ia lŘlŘ aie i ka palapala ole o ka pāhawewe ma luna o ke kino. Ua loli ai ultraviolet pāhawewe, protons a me ka X-kukuna, a me ka gamma kukuna.

A malalo iho e hoʻololi chromosome?

Undergo translocation o chromosome 13, 14, 15 a me ka 21. ka loa a me ka hanohano weliweli translocation - he Robertsonian translocation ma waena o chromosomes 14 a me ka 21.

Inā like me ka hopena o ka meiosis pepa keu chromosome (trisomy) fetal me ka translocation, e e hanau i ke keiki me Down maʻi pale. ʻO ia hihia Ua hiki ina Robertsonian translocation i hanaʻia i waena o chromosomes 15 a me ka 21.

Translocation o chromosome bana D

Robertsonian translocation chromosome Group D e loli ai acrocentric wale chromosomes. Chromosomes 13 a me 14 o ka pae'āina ma translocations i loko o 74% o ka hihia, a ua kapaʻia ka mea,'ōpaha translocations, i mea pinepine pilikia hopena no ka ola mea ole.

Eia naʻe, he mea hoʻokahi 'ole ke' i e pili ana i ia mau anomalies. Robertsonian translocation 13, 14 i na kanaka e alakai i ka hihia hoʻi fertility o ke kane lawe (45 xy chromosome huapalapala). Aie i ka mea e, no a hiki i ka emi ana o nā pōkole lima kahi o 2 hui o chromosomes pinepine he mea wale nō kekahi mea i mau lōʻihi, gametes ia he kanaka hiki ole haawi aku i ka viable keiki kakou nana.

ʻO ia Robertsonian translocation 13, 14 i loko o na wahine, a ho'ēmi i kā kona hiki no i ke keiki. Malama, aia nō ia mau wahine, a aole nae he mau manawa, i ka wa e hanau i ola na keiki. Akā, me nā 'ikepili helu nō hōʻike i ia mea pohihihi. Holo nōhie, i ole viable kā lākou poʻe keiki.

Ka hopena o ka translocations

Mākou i loaʻa i kekahi mau mall loli mau loa maʻamau a me ka mai i olelo hooweliweli aku. Robertsonian translocation pa alima ua nānā 'wale ma ka Ikepili. Akā, me ka hou-translocation i loko o ka lākou o ka mea e hiki mai ana o ka hanauna o ka chromosomes pilikia loa ia.

Robertsonian translocation 15 a me 21 i loko o ka huipūʻana me nā mall loli i hiki e disastrous. na hopena a pau o kekahi mall loli ma ka karyotype hōʻike i hou au mamuli. Hoole i ka karyotype - ia mea hoʻomaopop 'ana i loko o ke kanaka kau o chromosomes i loko o ka nucleus.

Trisomy a me ka translocation

Eia kekahi translocations aaiaoe? Kaʻawale abnormality e like me ka trisomy chromosome. Trisomy o ia hoʻi, ua fetal karyotype ua i kekahi o triploid chromosomes kahi o ka 2 kope i kekahi manawa ia lŘlŘ mosaic trisomy. I mea triploid 'ia paha o ka malama ole i loko o nā keena o ke kino.

Trisomy hui me ka Robertsonian translocation hiki aku ai i ka mea nui hopena: e like me Patau maʻi pale, Edwards, a oi, he pono ole Down maʻi pale. Ma kekahi mau hihia, i ka i ana o anomalies hiki aku ai i miscarriage ma ke kakahiaka nui kahua o ka hoʻonaʻauao.

Down ka maʻi pale. hoike ana

It E e hoʻomaopopo i ka translocation ke komo pū chromosomes 21 a me 22 i oi hale lio. Oia anomalies mea ole ona e, i ole hapa-lethal, akā hoʻi e alakai i developmental kino kīnā. Penei, trisomy 21 ma ka hoʻohui pū 'ia me ka Robertsonian translocation i loko o ka karyotype i loko o ka Ikepili o fetal karyotype - heʻoiaʻiʻo "hoailona" o Down maʻi pale, he aaiaoe maʻi.

Down ka maʻi pale ua wehewehe aku ma na kino a me ka noʻonoʻo 'kino kīnā. Wānana 'o ke ola o kēia kanaka e maikaʻi. I loko nō ka naʻau o nā maʻi a me kekahi physiological loli i loko o ka iwi, a me kā lākou mau kino ua functioning maʻamau.

Ke ano hiʻona o ka maʻi pale.

• i lalo ke alo;
• hoonee aku i elelo;
• i ka puu o ka ili ma luna o ka'ā'ī, e hele ana i ka pa;
• clinodactyly (curvature o na manamanalima);
• epicanthus;
• naau maʻi mea hiki i ka 40% o ka hihia.

People me keia maʻi pale lohi hoʻomaka e hele, e'ōlelo aku i nā hua'ōlelo. A no hoi, e aʻo ia oi paakiki ma mua o nā keiki a ka mea hookahi makahiki.

Akā, ka mea e hiki ke hoʻomāhuahua ai hana i loko o ke kaiāulu, a me kekahi kākoʻo a me ka pono hana a me kēia mau keiki ka mea i pono socialized i loko o ka wā e hiki mai.

Patau maʻi pale

Ka maʻi pale Ua emi, he pono ole ma mua o Down maʻi pale, akā, na mā o nāʻano likeʻole i ia he keiki he nui loa. Kokoke 80% o nā keiki i kēiaʻike, e make i loko o 1 makahiki o ka makahiki.

I ka makahiki 1960ʻo ia i aʻo i kēia anomaly, a loaa i ka aaiaoe kumu o ka hoʻokō 'ole' Klaus Patau, nō naʻe iā ia i loko o 1657 i ho'ākāka 'ia i ka maʻi pale T. Bartolini. Ua hoomahuahua ia ka pilikia o kēia mau kāna hana i loko o na wahine i hanau i ke keiki ma hope o 31 makahiki.

Mau keiki, he lehulehu physical mā hui me ka loa psychomotor ulu. Ano o ka maʻi pale.

• microcephaly;
• 'āno'ē lima, pinepine hana keu nā manamana wāwae;
• haʻahaʻa 'ia paha pepeiao ole shape;
• mauae lehelehe;
• pōkole'ā'ī;
• pilikia mau maka;
• maopopo "ke alanui" alahaka;
• mā o nā puʻupaʻa, a me ka naau;
• mauae lehelehe a kīleo;
• Hāpai keiki Aia He hoʻokahi wale nō umbilical artery.

A uuku helu o ke koena na kamalii uuku 'inikua kōkua. A ka mea, hiki nō ke ola i ka lōʻihi manawa. Akā, congenital anomalies nō pili i ke ano o ke ola a me kona brevity.

Edwards maʻi pale

Trisomy 18 chromosome translocation i loko o ke kāʻei kuaʻo ia Edwards maʻi pale. Kēia maʻi pale ua emi ua 'ike nui. Me keiaʻike, he keiki māhunehune i koena i eono mahina. maoli koho kānāwai, aole ia i ae i ka ulu kūpono kou me ka mau ke kino kīnā.

I mau, me ka helu ana o okoa mā i loko o ka maʻi pale Edwards - ma kahi o 150 e ike ipu, naau, na nā loko malformations koko. Mau makana i loko o kēia mau keiki hypoplasia o ka cerebellum. Aia mau anomalies o ka 'ole o ka manamanalima. Loa pinepine ia i kekahi kiʻiona anomaly akaka like me ka wawae deformity.

He aha e ho'āʻo ai hooholo abnormalities ma utero?

No ka karyotype Ka Ikepili i fetal pono e loaaʻia - fetal keena.

Mau kālailai. A hōʻea pehea ia ia lŘlŘ.

1. chorionic villus mea hōʻikeʻikeʻuʻuku. Ka Ikepili ma 10 pule. Mau villi - nō i ka pololei huna placenta. Kēia huna o liluwelo mea, e hai aku a pau loa e pili ana i ka wā e hiki mai ana o ka hua.

2. Amniocentesis. Me ke kui kele ma ua ia he mau fetal keena, a me ka amniotic loli. Ka mea, ua laweia'ku ka hapanui i hebedoma 16 o ka hāpai keiki, a ma hope o kekahi mau pule, i ka hui i ke kiʻi i ka piha 'ana i mea e pono ai i ke keiki ka.

Ma keia Ka Ikepili e hoouna aku i ka makuwahine me ka pilikia o ka hoopakele ana i ke keiki kino kīnā mahuahua me. IeAUPIIe, IAa IO aaiaoe Ka Ikepili kuhikuhi i kela mau hui ma i:

1) ua unexplainable abortions;

2) i ka hui i ole i hiki ke hapai i ke keiki;

3) i loko o ka 'ohana i komo i ka pili palapala ano.

Kēia mau keiki poʻe i loaʻa i ka Robertsonian translocations o kekahi chromosomes. A no laila, ka mea e mua e hana i ka Ka Ikepili ma ka karyotype e ike i ka mea i ka manawa e lawe aku no hoi a me ka hanau i ka olakino bebe.