'ōewe mutations i pili me ka loli ma ka helu a me ka 'ole o ka chromosomes

E kali ana no ka hanau ana o ke keiki - ka maikai manawa no nā mākua, akā, i ka meaʻino. He nui ua nui kou manaʻo i ke kamaiki i e hanau i kekahi ke kino kīnā, kino ai 'ole ka noʻonoʻo' kino kīnā.

Nauka aʻole e ku malie oukou, e mea hiki, e nānā i ka mea uuku bebe ma ka hāpai keiki no ke alo o abnormalities i loko o ka ulu ana. Ua aneane hiki hōʻike a pau o kēia mau ho'āʻo ma ina OK a pau me ke keiki.

No ke aha la ka mea i ka mea makua hiki ke hanau loa kekahi mau keiki - olakino keiki, a he keiki me ke kino kīnā? Ua hoakaka nā'ōewe. I hanauʻiliahi kamaiki a keiki me ke kino kīnā physical lakou aloha ia'ōewe mutations pili me ka loli i loko o ka 'ole o ka DNA. Na Google e olelo hou no ia. E ka ike pehea keia hana, kekahi'ōewe mutations i, a me kā lākou mau mea, lalau mai.

He aha mea he mutation?

Mutation - he loli i loko o ka physiological a liluwelo keena ma ka DNA 'ole. Ke kumu paha e waiū (i hāpai keiki hiki ole lawe kiʻi o ka X-Ray, no nā palapū a me fractures), ultraviolet kukuna (lōʻihi la waiū i hāpai keiki, a me kona noho ana i loko o ka lumi me ke komo pū ultraviolet kukui). Nō hoʻi, i kēia mau mutations hiki ke hele ia, a ili mai ko kākou poʻe kūpuna. A pau o ia e māheleʻia i loko o ke ano.

'ōewe mutations me nā loli i chromosome 'ole a me ka helu o ka

Chromosomal mutation - he mutation ma i ka 'ole a me ka helu o nā chromosomes hoʻololi. Chromosomal wahi i haule ai papalua, neʻe i nonhomologous ciia, huli mai ke kūmau no hoʻokahi haneri a me kanawalu degere.

Nā kumu o ia ka mutation - he 'aʻe ma lalo o krossengovere.

'ōewe mutations i pili me ka loli ma ka chromosome 'ole a me kā lākou mau mea, i ke kumu o ke kaumaha kāna hana a me ka maʻi i loko o ke keiki. Mau maʻi i maʻi.

Ano o ka chromosome mutations

elua wale 'ano o ka nui chromosomal mutations OAOOUIEeE: laulā a me ka mall. Aneuploidy - o ka helu o ke ano o ka chromosomes, oia hoi, ka wā'ōewe mutations i pili me ka loli ma ka helu o nā chromosomes. He ka muli o ka nui a me ka oi ana o ka mea hope, o ka make ana o kekahi o ia mau mea.

'ōewe mutations pili me ka loli ma 'ole i loko o ka hihia ma ka chromosomeʻoluʻolu o ka, a me a laila hui hou, ka uhaʻiʻana i ka maʻamau hoʻonohonohoʻia.

Ano o ka laulā chromosome

Ma ka helu o nā mutations ma chromosome aneuploidy kaʻana like 'ana, oa? Ueo. E hoomanao i ka papa kuhikuhiE, huli mai i ka laua koena unuhi.

• trisomy

Trisomy - o ka muli i loko o ka karyotype o ka keu chromosome. Ka loa, he pono ole kŰia - o ka muli o ka chromosome iwakalua-mua. Ua lilo ke kumu o Down maʻi pale, paha, e like me ka mea i kapa ia maʻi - trisomy o ka chromosome iwakalua-mua.

Patau maʻi pale ua 'akomi i ma kaʻumikumamākolu a me ka umikumamawalu ma chromosome diagnosed Edwards maʻi pale. O nā mea a pau autosomal trisomy. Other trisomies i ole viable, e make i loko o ka opu, a ua nalowale ka wā o ka noho'na makaainana i ulu abortion. O na kanaka, ka poe i hou anal chromosomes (X, Y), - mea hānai. Ka lapaʻau hoike ana o ia mau mutations ka loa haʻahaʻa.

'ōewe mutations pili me ka loli ma ka nui ana no kekahi kumu. Trisomy loa paha, e ana i ka wa a ka divergence o na chromosomes homologous ma ka anaphase (meiosis 1). I ka hopena o keia divergence mea i nā chromosomes hāʻule wale i loko o kekahi o nā kaikamahine keena elua, a me ka lua o ka mea nele.

Emi olelo, ka mea i e ole-disjunction o chromosomes. O kŰia ua kapaia ka 'aʻe' ana o ka discrepancy ma waena o ke kaikuahine chromatids. Ua lŘlŘ ka meiosis 2. 'O kēia ka hihia ka wā mau'ālike chromosomes noho i loko o kekahi gamete, ma o na la trisomic zygote. Nondisjunction ia lŘlŘ i loko o nā kuʻina kakahiaka o ka hua palaoa kaʻina mea i ua fertilized. Penei, he clone mutant aeee a hiki uhi i ka nui a uuku hapa o ka'aʻaʻa. I kekahi manawa e hoike mai ai ia ia clinically.

He nui no ka chromosome iwakalua-mua ua pili i ka makahiki o ka hapai wahine, akā, i kēia ololi a hiki i keia la, aole maopopo hoike. Kumu no ka ole diverge chromosome, kona mau helehelena.

• monosomy

Monosomy i kapaia ka nele o kekahi o na autosomes. Inā keia hana, laila, i loko o ka hapanui o na hihia he mea hiki ole i ka hua, premature hanau ana i loko o ke kakahiaka kahua o ka hoʻonaʻauao. Ka hoʻokoe '- monosomy ku i ka chromosome iwakalua-mua. Ke kumu i loaʻa mea he monosomy ke lilo ole-disjunction o chromosomes, a me ka poho o chromosomes i anaphase kona ala i loko i ka hīnaʻi manu.

By monosomy anal chromosomes hualoaʻa ma ka fetus ma i ka XO karyotype. Lapaʻau hoike ana o ka karyotype - Turner maʻi pale. Kanawalu pakeneka o na hihia mai o ka haneri helehelena monosomy o ka X chromosome mea ku pono i ka 'aʻe' ana o meiosis bebe Daddy. Kēia mea ma muli o ke nondisjunction X a me Y chromosomes. Holo nōhie, i ka hua o ka XO karyotype ua make i loko o ka opu.

E like me ka ke keka chromosomes trisomy ua maheleia i ekolu hoailona ia mea: 47 XXY, XXX 47, 47 XYY. Klinefelter ka maʻi pale o Trisomy 47 XXY. Me ia he karyotype kuu manawa e lawe ai i puunaue i kanalima-kanalima ke keiki. Ke kumu o keia maʻi pale hiki ia he nondisjunction o chromosome X, a me ka X a me Y nondisjunction spermatogenesis. hiki wale i ka lua a me ke kolu karyotypes ana i loko o kekahi o nā tausani o ka hapai wahine, mai ana i loko o ka hapanui hoopii, loaʻa nō ka ulia ka mea, kokoke mākaukau.

• polyploidy

Kēia'ōewe mutations pili me ka loli ma ka haploid 'ia paha o nā chromosomes. Mau He poho hiki e pākolu a me ka quadruple. Triploids Ua loa mau diagnosed wale ia malaila i kekahi noho'na makaainana i ulu abortion. A ua noho mau hihia ma o ka makuahine e hoʻokele i ka hana e like me ke kamaiki, akā, ka mea a pau, make iho la mua a hiki i ka makahiki a me ka mahina. Maomeka o'ōewe mutations ma ka hihia triplodii i, a piha lakou hoopuehu ana o nondisjunction o chromosome e puhi ia kekahi wahine a kane germ keena. Nō hoʻi, keʻano papa hana i malama i ka papalua fertilization o ka hua. Ma keia hihia, he mea degeneration o ke keiki. Kēia rebirth ua kapaia molar hāpai keiki. Nō kāu, i kēia mau loli alakai i ke kūpono 'ana o ka bebe i ka noʻonoʻo a me ka physiological kāna hana, abortion.

A'ōewe mutations i pili me ka loli ma ka chromosome 'ole

Ke mall loli i kaʻilihune o ka chromosomalʻoluʻolu o (fracture) chromosome. E like me ka hopena o kēia mau chromosomes i pili, wawahi ae la i kona mua helehelena. Mau ka hoʻololi 'ana i ia i'ōpaha a me ka' O ke kaulike. Balanced i ole loaʻa pākeu paha shortage o ka mea, naʻe ka mea,ʻaʻole e hōʻike 'ia. Ka mea, ke hana wale i loko o ia mau hihia, kahi i-paena ka make ana o ka chromosome ua he'ōewe i mea functionally nui. Ma ke koena aku hoi kau o gametes i ikea'ōpaha. Ma no o keia gamete fertilization hiki i ka helehelena o ka fetus me ka'ōpaha chromosome huapalapala. Me keia i ka fetus ke hoala mai i ka helu o malformations ikeia loa pathologies.

Kind o mall ka hoʻololi 'ana

'ōewe mutations ana ma ke kiʻekiʻe o ka gamete ho okumu. E pale aku i kēia kaʻina ke ole, aole hoi i hiki pono ke ike i na mutations i kānāwai. Mall ka hoʻololi 'ana i kekahi mau ano.

• holoi '

Kēia loli mea ku pono i ka poho o ka hapa o ka chromosome. Once keia nahā i lilo pōkole chromosome, a me kona hoʻokaʻawale auaneʻi au hapa ua lilo ma ka hou halepaahao mahele. Interstitial holoi '- keia mea no ka oiaio i ka wa a ua uhaʻiʻia kekahi chromosome ma kekahi mau wahi. Mau chromosomes mea nō kāu paka nonviable fetus. Akā, aia no na hihia kahi keiki i ola, akā, i ka mea, no ka mea, o keia kauoha ma o chromosomes ua Wolf-Hirschhorn maʻi pale, "popoki ka uwēʻana."

• duplication

Mau'ōewe mutations ana ma ke kiʻekiʻe o ka hui o ka DNA pāpālua. Holo nōhie duplication hiki ole ia i ke kumu o ia mau abnormalities mea i holoi '.

• translocation

Translocation ia lŘlŘ aie i ka hoolilo ana o aaiaoe mea mai kekahi chromosome i kekahi. Inā he mea kekahi rupture i loko o kekahi mau chromosomes, a e haawi aku i na Hoʻohana, e lilo i kumu o ke retsiproktnoy translocation. Ke karyotype o keia translocation i chromosomes wale kanaha-kumamaono. Ka loa ia translocation wale nō i hōʻikeʻia e ka piha Ka Ikepili a me ka hoʻopaʻa 'ana o chromosomes.

Loli ma ka nucleotide kaʻina

'ōewe mutations i pili me ka loli ma ka nucleotide kaʻina, ka wā i hoike ia ma ka hooponopono hou ana i ka 'ole o kekahi mau pauku o ka DNA. Ma ia mutation waiwai, e māheleʻia i loko o nā 'ano - me ka kapiliia naeaeaa a me ka naeaeaa. E ike pono i ke kumu o ka loli o ka DNA, ia mea pono e noonoo type kēlā me kēia kaawale.

Ponoi naeaeaa mutation, me ka

Mau'ōewe mutations i pili i ka loli a me ka hope o ka waihona ipu hui i loko o ka DNA 'ole. Inā ua substitutions mai i lilo aku i ka DNA lōʻihi, akā, hiki ke lilo, a me ka hope o'amino nāʻakika. Aia ka he manawa kūpono i ka 'ole o ke kumuʻiʻo ua malamaia, ka mea e malama i ka degeneracy o ka aaiaoe kivila. E noonoo i nā lāliʻi o nā koho: i ka hope, a me ka'aminoʻakika substitutions.

Mutation ma ke kūapoʻana'amino nāʻakika

Waiho hou ka'aminoʻakika koena i loko o ka polypeptide kapa missense mutations. Ma ka hemoglobin lātoma, he eha kanaka kaulahao - mau "a me ka" (ka mea, ua aia i loko o ka umikumamaono chromosome), a me nā "B" (helu kuʻina i loko o ka chromosome umikumamakahi). Inā "e" - he maʻamau huahelu, a he mea hoʻokahi haneri a me ka ono paha o ka'aminoʻakika residues i loko o kona 'ole, a me ke ono paha o ka mea he glutamic, ka hemoglobin mea maʻamau. Ma keia hihia, ke glutamicʻakika e e encoded GAA triplet. Inā ma muli o ka mutations GAA GTA auou caiaiai, kahi o glutamicʻakika i loko o ka hemoglobin lātoma i hana valine. Penei, kahi o ka mea maʻamau hemoglobin HbA mea akaka i kekahi hemoglobin HbS. Ke'ī mai, i ka hakahaka o kekahi'aminoʻakika, a he hoʻokahi nucleotide e i nui loa maʻi - pahikakiwi aeea anaemia.

I ka maʻi ua hoikeia aku ai e na mea i ka hoʻokino ulaula koko keena e like me ka oi loa. E like me ia, ka mea eʻaʻole hiki iā pono hoopakele ka oxygen. Inā ma ka ke kelepona hele kiʻekiʻe i homozygous HbS / HbS haʻilula, e hele aku ai i ka make ana o ke keiki i loko o ke kakahiaka kamaliʻi. Inā ka haʻilula HbA / HbS, ka ula koko aeee i ka nawaliwali 'ano o ka loli. Kēia hōʻemi iki loli mea he pono keia mau mea e like ai - ia'ku i ka malaria. Ma ia mau'āina kahi mea he pilikia o ka aoao hana malaria o ka ia me ia ma ka anu o Siberia, ua loli i ka maikaʻi kēia mea e like ai.

Mutation o'amino nāʻakika me ka hope

Nucleotide substitutions ole e loaa hou mai o ka'amino nāʻakika kapa seymsens mutations. Inā ka DNA māhele hoʻopā'ālua ka "B" - kaapuni e e auou caiaiai ma ka GAA GAG, laila, ma muli o ia ka mea i ka aaiaoe kivila , e ia ma ka oi, glutamicʻakika hope hiki ole ana. kaula 'ole ua ole hoʻololi, na erythrocytes e,ʻaʻole e hoʻololi' ia.

Frameshift mutation

Mau'ōewe mutations i pili me ka loli i loko o ka lōʻihi o ka DNA. Loa paha e uuku a nui, ke kaumaha ma muli o ka lilo 'ole hou o ka nucleotide hui. Penei, pono a pau 'ole o ke kumuʻiʻo ua hoʻololi.

Intragenic suppression ke kānāwai. O kŰia ia lŘlŘ ka wā aia no he wahi mau mutations i compensate kekahi i kekahi. 'O kēia ka manawa o ka hui ana nucleotide hui ma hope o kekahi i ka lilo, a me ka hope versa.

Nonsense mutations

He He kūikawā pūʻulu o mutations. He pohihihi keia, i loko o kona hihia, he mea i ke ano o ka holo ana codons. Kēia ke hiki elua i loko o ka poho o ka waihona ipu hui, a i loko o lākou ka piʻiʻana. I ka loaʻa i hooki codons, na polypeptides hoʻololi kemikala mahana loa. Penei ke hana i kekahi Yard allele. Ka mea, e 'Aʻohe kekahi i kekahi o na nā polokina.

Aia mea e like me ka mea i intergenic suppression. Kēia mea he kŰia kahi o ka mutation o kekahi'ōewe suppresses na mutations i loko o ka 'ē aʻe.

ina paha he loli i 'akomi i hāpai keiki?

'ōewe mutations pili me ka loli ma ka helu ana o chromosomes i loko o ka hapanui o na hihia hiki ke nānā '. E huli mai paha ka hanau mā ma ke ana a me ka pathology, ma ke kakahiaka nui o ka pule hāpai keiki (mai ka umi a hiki i heʻumikumamākolu nā pule) hoakaka ia loiloi. Kēia mea he moʻo o ka poe noonoo ole ana: i ka pā ma luna o ke koko Eia kekahi laʻana, mai ka manamana lima a me ka aa koko ultrasound. Ma fetal ultrasound ia i kulike ai me na mea kiko'î o nāʻaoʻao, a me ka ihu poo. Mau mea kiko'î mea i loko o ka ikaika 'ole-kaʻaeʻana hōʻike i ke kamaiki, ua mā ma ka ulu ana. E hoʻokūpaʻa a hoole i kaʻike, ma muli o ka hopena o ke koko hōʻike.

Nō hoʻi, ma lalo o kokoke hooponopono ana o na kahuna lapaau i wā e hiki mai makuwahine, keiki i hiki i ka mutation ma ka aaiaoe pae, ua ili mai iā ia. Mea hoi, ua mau wahine, hanauna o ka poe hihia o ke keiki a me ka noʻonoʻo 'ole physical kino kīnā, hōʻike' Down maʻi pale, Patau a me nā aaiaoe maʻi.