'ōewe, genome, chromosome: ka ho'ākāka 'ana,' ole, kuleana pili i

"'ōewe", "'ōewe", "chromosome" - olelo e kama'āina i nā schoolchild. Akā, pono i ka manaʻo o kēia mea 'ano generalized like e deepen ma biochemical nani' ike, a me ka makemake e ike ia a pau. A me ia mea, ina e mea i hiki mai ma ka pae o ka lanakila, e nalo koke ma lalo o ke kaumaha o ka hōʻike. E ka ho'āʻo e maopopo i nā intricacies o aaiaoe 'ike i loko o ka' epekema a me ka Polar ano.

He aha mea he'ōewe?

'ōewe - ka uuku huna o mall a me ooieoeiiaeuiiai 'ike o nā kūpuna i loko o ola meaola. ʻano nui ia mea he apana o DNA, a iloko ona i kakauia i ka ike e pili ana i ka mea i ho'ākāka ''aminoʻakika kaʻina e? Ieoaeunoai kumuʻiʻo ole ooieoeiiaeuiiai RNA (a e e synthesized i kumuʻiʻo). Ke'ōewe hoʻoholo i nāʻano a pau i ili mai iā ia, a hele akula ma luna o nā mamo o ka kuauhau kaula. Kekahi hookahi-aa? Meaola, he mea'ōewe hoolilo, i ua ole e pili ana i ka'ōlelo o ko lākou mau ano, ka mea, ua kapaia papamoe.

"Ma o nā poʻohiwi" o nā'ōewe mea he kuleana nui no ka mea, e nana, a hana i na halepaahao a me ka meaola like me ka a pau. Ka mea, ka pāʻana mākou ola, mai ka manawa o ka hapai ana a hiki i ka hope hanu.

Ka mua scientific mua aku i loko o ke ao ana o nā kūpuna mai i i e ka'Aukekulia mōneka Gregor Mendel, ka mea i loko o 1866 paʻi i kona mau loina ma luna o nā hualoaʻa ma ka i kela kapa o ka peas. Hereditary mea, i iho la hoʻohana maopopo hoike mai i na hoailona o ka EYI lauana, e like me ka waihoʻoluʻu a me ke kinona o peas a me nā pua. Kēia mōneka ua kālaiʻia i nā kānāwai e hana i ka hoʻomaka o aaiaoe? Like me ka 'epekema. Hooilina o nā'ōewe mea no ka mea, e haawi aku na makua kā lākou keiki no ka hapalua o kona chromosomes. Penei, na hoailona o Mom a me Pāpā, hoʻohuihui, e hana i ka hou pu ana o ua eia? Ueony hiʻona. Mea pōmaikaʻi, ke koho i oi ma mua o nā mea ola ma luna o ka Honua, a he mea hiki ole ke imi i mau loa'ālike mea.

Mendel hoike mai i hereditary aʻe i ole hui, a me ka pū i hiki i loko o ka palapala o ka discrete (kaawale) huahelu mai na makua i ka keiki kakou nana. Mau huahelu i hōʻike 'ia i loko o specimens hui (alleles) noho discrete a me ka pū i hiki i olaa aku la hanauna i loko o kane a me ka wahine gametes, kela mea keia mea o ka iloko ona i kakauia kekahi pa alima o kēlā me kēia mau. I ka 1909, he Denemaka botanist Johannsen i kapa mau huahelu o nā'ōewe. I ka makahiki 1912, he geneticist mai ka Amerika Huipuia o Amerika, Morgan hoike mai i ka mea, i loko o nā chromosomes.

Mai laila, ka mea i oi ma mua o ka hapa kenekulia, a ua nui aku ma mua o Mendel hiki i noonoo haʻawina. Ma ka manawa, kńnaka i noho ma luna o ka manao i ka ike waiho i loko o nā nā'ōewe, e hoʻoholo i ka ulu, ana a me ka hana o ke ola meaola. A malia o hiki loa lākou i ka make.

Mea Maluna

'ōewe 'ole he ole wale' ike e pili ana i ke kumuʻiʻo, akā, i ka wā hoike a pehea ka mea, ua heluhelu, a me ka ipu mau mea e kukaʻi pono e kaʻana like 'ike e pili ana i keʻano nā polokina, a hooki i ka hoʻololi kemikala o ka' ike nā lātoma.

Aia he mau ano o nā'ōewe:

1. Mall - ka mea, aia no iloko olaila 'ike e pili ana i ka' ole o nā polokina a RNA mau kaula. Ke nucleotide kaʻina hoʻopili like i ka'amino nāʻakika.
2. Ooieoeiiaeuiuo nā'ōewe kuleana no ka pololei 'ole o ka i koe DNA haʻawina o ka synchronism kaʻina, a heluhelu ia.

I ka lā, e hiki ke pane i ka ninauʻepekema: ehia na nā'ōewe i loko o ka chromosome? E ke pane hou oe: ma kahi o ekolu ieeeea? hui. A me keia mea wale kekahi o iwakalua-ekolu. Genome o ka mea liilii loa mall pa alima, akā, ka mea hiki ke hoʻololi i ka kanaka o ke ola.

mutations

Accidental ole deliberate loli o ke kaʻina nucleotide loko o ka DNA ili aku ai, i kapaʻia he mutation. Ua hiki apuepue pili i ka 'ole o ke kumuʻiʻo, a hiki loa paha ka nānaina kona waiwai. No laila, e ka kūloko a me ka honua mea hoʻomaoe o ia ka loli.

Ma o lakou iho, i ka mutations i e pathogenic, i mea maopopo no ia e like me ka maʻi paha lethal,ʻaʻole hiki i ke kino, e hoʻomōhala i loko o ka viable moku'āina. Akā, ka hapanui o nā hoʻololi mea moakaka a hiki i ke kanaka. Holoi 'a me duplications i mau hana i loko o ka DNA, akā, e i pili i ke ala o ke ola o kēlā me kēia kanaka.

Moʻolelo holoi - he lilo o ka chromosome māhele e na kekahi 'ike. I kekahi manawa, i kēia mau loli i pono i ke kino. Ka mea kōkua iā ia pale aku mawaho aggression, e like me kanaka immunodeficiency mea hoʻomaʻi a me koʻohune mai ino.

Duplication - he a pāpālua hoʻi o ka chromosome aina, a ma keia hope aku i ka lākou o nā'ōewe i ka mea iloko ona, ka mea, ua i pāpālua. No ka mea, o ka repetition o ka 'ike, ia mea malalo iho o ke emi? Aneii, a no ia mea, ke loaa mutations, a hoʻololi i ke kino wikiwiki.

mall'ōewe

Kēlā me kēia kanaka i ka nui DNA lātoma. Nā'ōewe - he loiloi pa alima i loko o kona 'ole. Akā,ʻo kēia mau mau mea uuku i kā lākou mau kūlana waiwai e ae, e malama i ke kumupaʻa o ke aloha ke ola:

1. Readability - ka hiki i hui pu ole ai nā'ōewe.
2. Kumupaʻa - ka malama ana o ka 'ole a me ka waiwai.
3. Lability - ka hiki e hoʻololi ma lalo o ka aoao o ke ana, a hiki i ke hakuloli i kekahiʻenemi kaiapuni.
4. Mau allelism - ola i loko o ka DNA o nā'ōewe a, hoʻopā'ālua ka ia kumuʻiʻo mea o kekahi 'ole.
5. Allelic - loaʻa nō nā ano o kekahi'ōewe.
6. Specificity - kekahi hoailona = kekahi'ōewe ua ili mai iā ia.
7. Pleiotropy - multiplicity o ka hopena o ka hoʻokahi'ōewe.
8. Expressivity - oolea PAaIEN i ua encoded ma ka'ōewe.
9. Penetrance - alapine (frequency) o ka genotype i loko o ka'ōewe.
10. Amplification - hanana o ka nui'ōewe kope helu ma DNA.

genome

Ke kanaka genome - o ka a pau hereditary mea, i mea i loko o ka hookahi kanaka halepaahao. I ka mea, i nā alakaʻi ma luna o ka hana o ke kino, na nā loko, i ka physiological hou. I ka lua o ka wehewehena o ka makahiki Hōʻike 'o ka' ole o ka manaʻo, e makemake ana ia ma mua o ke kuleana pili i. Ke kanaka genome - i ka ohi ana i aaiaoe mea piha i loko o ka haploid lākou o nā chromosomes (23 hui) a ua pili i kekahiʻano.

Ke kumu o ka genome mea he lātoma o deoxyribonucleicʻakika e maopopo loa me DNA. All genomes komo ma ka liʻiliʻi mau hoailona ia mea o ka 'ike: ka kivila mai' ike ma luna o ka 'ole o nā lātoma intermediary (ka ai-kapaia RNA) a me ka kumuʻiʻo (keia ike ua iloko o loko o nā'ōewe), e like me ka pono i olelo e hoakaka i ka manawa a me ka wahi o ka' ia o kēia 'ike i loko o ka ulu ana o ka meaola. Nā'ōewe lakou iho kūlana 'i ka hapa uuku wale no o ka genome, akā, i kona manawa. Ka 'ike kākau i loko o nā nā'ōewe - he ano o ke alakai no ka? Iecaianoaaiiie o nā polokina, ke kumu o kukulu ālai' o ko mākou kino.

Eia naʻe, no ka mea, i ka piha characterization o ka genome insufficiently hoohui i loko o ia 'ike e pili ana i ka' ole o nā nā polokina. Mau hea hana hou 'ike e pili ana i na kumu o ka aaiaoe i hoʻomākaukauʻia, a komo' ana i loko o ka hana o nā'ōewe hooponopono i kā lākou 'aoʻao ma kekahi mau kahua o ka hoʻonaʻauao o? Acaeoey, a ma kekahi wahi, i hiki ke ola.

Akā,ʻo kēia mea,ʻaʻole lawa no ka piha paa o ka genome. No ka mea, i loko o ka mea, he mea no hoi hehee wale i he hoʻonui i kona pakiko-nā'ōlelo (replication), olelo hoopomaikai OAaEeOOAIE DNA i loko o ka nucleus, a hiki i kekahi na i mau mea, i kekahi manawa, i kapaia o "kanaka p'," (ia mea, ina wale no na aaiuo iho). No ka pau kēia mau kumu, i ka manawa, i ka wa e hele ai i ka genome, IeAUPIIe, IAa IO i ka manao o ka totality o ka DNA kaʻina i hoikeia ma ka chromosomes o ka halepaahao nuclei o ka kekahiʻano o nā meaola, a me, o ka papa, a me nā'ōewe.

I ka nui a me ka 'ole o ka genome

He Logical e kuhi i ka'ōewe,'ōewe, chromosome mea okoa i loko o kekahi 'elele o ke ola ma ka Honua. Mea hiki e like infinitely uuku a me ka nui, a no ka ieeeea? O nā hui o nā'ōewe. 'Ole o ka'ōewe, e i hilinaʻi ma luna paha e hoʻokolokolo ai kona genome.

Ma ka lākiō ma waena o ka nui o ka genome, a me ka helu o kona lālā nā'ōewe o nā papa hiki ke hookoaia:

1. Olelo hoopomaikai genomes i mea ole oi aku mamua o umi miliona kumu. Ka mea, i ka lākou o nā'ōewe ua ikaika correlated me ka nui. Ka hapanui ano o nā mea hoʻomaʻi a me prokaryotes.
2. Nui genomes komo o ka oi ma mua o 100 miliona kumu hui, ka ole pilina ma waena o lākou lōʻihi, a me ka helu o nā'ōewe. More, he pono ole i ka eukaryotes. Ka hapa nui o ka nucleotide kaʻina i loko o keia papa mai i encode nā polokina a RNA.

Haʻawina i hoike ia, aia nō ma kahi o 28.000 nā'ōewe i loko o ke kanaka genome. Ka mea, i unevenly haawi ma ka chromosomes, akā, i ka waiwai o keia hiʻona koe o ka mea pohihihi i kaʻepekema.

chromosome

Chromosomes - mea he ano o ka'ōpala o ka aaiaoe mea. Ka mea i loaʻa i loko o ka nucleus o eukaryotic keena, a me kela mea keia mea he o kekahi lōʻihi loa DNA lātoma. Ka mea, hiki wawe ke ike ia ma ka malamalama microscope i loko o ka fission kaʻina. Karyotype ua kapaia he piha lākou o nā chromosomes, i mea i ho'ākāka 'ia no kēlā me kēiaʻano. OAXA nā kumumea no ia mea i ka centromere, telomere a me ka replication wahi.

Loli o chromosomes i aeea mahele

'ōewe, genome, chromosome - he pūkaʻinaʻikepili EYI kaapuni huahelu, ma kēlā me ka loaʻa o ke kēia mua. Akā, e undergo kekahi loli ma ka papa o ke ola o ka halepaahao. No ka laʻana, ma ka interphase (ma waena o māhele) i loko o ka nucleus chromosomes i hoonohonoho loosely, lawe i nui ka lewa.

I ka wā o ka halepaahao prepares no ka mitosis (m. E. No ka hookaawale kaʻina hana i loko o nā), ka chromatin condenses a ua haika i loko o ka chromosomes, a me ka manawa e lilo hiki i ka malamalama microscope. I metaphase chromosomes e hoohalike ai i na laau manaʻo pili i kekahi i kekahi, a pili i ka iniiaiie constriction paha centromere. He kuleana ia no ka ho okumu ana o ka mitotic kālī, ka wā i ka pae ana o chromosomes laina mai. Ke kaumaha ma muli o ka wahi o ka centromere, aole i koe kekahi Mea Maluna o chromosomes:

1. Acrocentric - ma keia hihia, no ka centromere ua ke aupuni 'diametrically me ka pili ana i ka waenakonu o ka chromosome.
2. Submetacentric ka wā o nā poʻohiwi (ia mea, kahua i mea ma mua, a ma hope o ka centromere) o kaiʻewaʻewa lōʻihi.
3. Metacentric ina ka centromere i hookaawale ai i ka chromosome like i loko o ka waena.

Kēia Mea Maluna o na chromosomes Ua manaoia i ka makahiki 1912, a ua hoʻohana 'ia e biologists a hiki i keia la.

chromosome anomalies

E like me nā morphological oihana mua o ka meaola ola, chromosomes no hoi e hana mall loli i aloha ia i ko lakou kuleana pili i:

1. Aneuploidy. Kēia loli i loko o ka huina helu o chromosomes i loko o ka karyotype ma ka pepa a me ka wehe 'ana i kekahi o ia mau mea. I ka hopena o ia mau mutations i e lethal i ka unborn fetus, akā, no hoi i hanau mā.
2. Polyploidy. like e hoʻoulu ai i ka helu o chromosomes, mau ka hapalua o lākou helu Ua hoike aku. Ka hapanui pinepine i loaʻa i loko o mea kanu, e like me ka līoho a me fungi.
3. Chromosomal aberrations, a me ka kūkuluʻana, - he loli i loko o ka 'ole o ka chromosome ma lalo o ka aoao o ke? Aneie aʻe.

aaiaoe?

Aaiaoe? - ka 'epekema e Haʻawina i nā kānāwai o nā kūpuna a me ka oko a, e like me ka hōʻoia' lākou liluwelo maomeka. Haʻalele nui no hoi na liluwelo sciences ia mai kona inception, ka mea, ua imi ia e ka kiko'ī 'epekema. o ka moolelo o ka mea i hanaia a me ka pono o ka nui a me ka oi pololei kāu kiʻina hana a me nā hoʻokokoke mai - Ka pau moolelo o aaiaoe?. pāʻani nō nā manaʻo a me nā hakakā o aaiaoe? kūlana nui i ka lapaau, mahiʻai, aaiaoe 'enekinia, microbiology hana.

Nā kūpuna mai - ke kino i ka hana, e hoomakaukau i loko o ka moʻo o intergenerational ka hoʻomauʻana o ka morphological, biochemical a me ka physiological 'ano a me nā hiʻona. Ma ke kaʻina hana o ka'āina hoʻoili pâʻani nui? Ueony-kekahi, pae (lāhui, ka heluna) a me ka ohana 'ano o ka' ole a me ka functioning o meaola a me kā lākou ontogeny (kanaka kūpono 'ana). 'Aʻole wale nō ili kekahi mall a me ooieoeiiaeuiuo ano o ke kino (lehalehu t hiʻona, i kekahi mau hiʻohiʻona o ka metabolic keʻano o ka hanaʻana, temperament listen'ōlelo.), Akā, i ka physicochemical hiʻona o ka' ole a me ka hana ana o ke kumu o halepaahao o biopolymers. Variability - heʻano o symptoms i waena o kekahi mau? Ueony, e like me ka waiwai o na pua o ke kuai okoa mai ka makua pepa. Variability me nā kūpuna mai nō ka mau inseparable waiwai o ola meaola.

Down ka maʻi pale

Down ka maʻi pale - he aaiaoe maʻi i loko o i karyotype ninoieo o 47 chromosomes i loko o ke kanaka kahi o ka mau 46. He Heʻano o ka aneuploidy, like ana no ma luna. I ka hui he iwakalua-mua o chromosomes he mea keu i kō keu aaiaoe 'ike i loko o ke kanaka genome.

Kona inoa maʻi pale i ka inoa hope o ka kauka, Don Hilal, ka mea i ikeia, a kakau lakou ia mea i loko o ka moʻokalaleo like me ka ano o ka noʻonoʻo kāna hana i loko o 1866. Akā, aaiaoe kāʻei kua Uaʻike aneane he haneri makahiki ma hope.

epidemiology

Ma ka manawa, i ka karyotype o 47 chromosomes i loko o kānaka ia lŘlŘ kekahi manawa i loko o ka tausani nā pēpē i (mamua, 'ikepili helu ua okoa). Ua i i hiki ai i ke aloha a hiki i ke kakahiaka nuiʻike, o keia pathology. Ka maʻi Aʻole i hilinai ma ka lāhui, lāhui kumu a me ka makuwahine o kona pōʻai kūlana. 'Ole ma ka makahiki. Ka hiki wale no i loaa i ke keiki me Down maʻi pale, piʻi pū ma hope o kanakolu-kumamalima makahiki, a ma hope he kanaha nui o ola mau keiki i nā mea maʻi, ua like me 20 i 1. ka makahiki o ka makua kāne ma luna o nā makahiki he kanahā kekahi maoli i ka manawa o ka loaa i ke keiki me ka aneuploidy.

Ano o Down maʻi pale

Ka loa, he pono ole Lolina - ka muli o ka keu chromosome i loko o ka hui he iwakalua-mua o ka ole-hereditary ala. He aie i ka mea i loko o ka mau o ka meiosis, aole ia i kū'ē'ē 'ia ma ka mahele kālī. Five pakeneka o ka hihia malama mosaicism (keu chromosome he ole a pau keena o ke kino). Together ka mea, e i kanaiwa-kumamalima pakeneka o ka huina helu o ka poʻe i kēia congenital kina. Ke koe elima pakeneka o ka maʻi pale ua kauoha ae la ia e kekahi hereditary trisomy iwakalua-mua chromosome. Naʻe, i ka hanau ana o nā keiki a me ka maʻi i loko o ka hookahi ohana wale iki.

? aaieou

A kanaka me Down maʻi pale hiki ke 'ike ma ke ano mawaho hiʻona,ʻaneʻi nō kekahi o lākou:

- flattened maka;
- he hoopokole iwipoo (transverse Ana oi aku ma mua o ka lonikū);
- ili ohana hoi ma o ka ai;
- ohana hoi o ka ili e uhi i ka pahale kihi o ka maka;
- excessive ka hoʻoneʻe o ami;
- ua hoʻemi Muscle leo;
- flattening o ka hope o ke poo;
- pōkole lala a me ka manamanalima;
- i ka hooulu ana o cataracts i loko o na keiki mua o ewalu makahiki;
- anomalies o nā niho a me ka kīleo;
- congenital naau maʻi;
- aole paha e ka epileptic maʻi pale;
- leukemia.

Akā, maopopo i kaʻike, ma muli wale nō ma mawaho hoikeana, o ka papa, ole i ke Akua. Pono i ka karyotyping.

ka hopena

'ōewe,'ōewe, chromosome - ia mea ia ia ka pono o ka hua'ōlelo kona manaʻo mākou maopopo collectively a loa remotely. Akā, ma ka mea, ka mea nui pili i ko kakou mau ola a me ka hoonohonoho hou ana, a mākou e hoʻoikaika i ka hoʻololi 'ana i. Ke kanaka i ike i pehea e ke hakuloli i na kumu, na mea a pau ka mea, ua, a me ka hiki no ka poʻe me aaiaoe abnormalities he mea mau i ka manawa a me kahi e e irreplaceable mea.