Chromosomal maʻi - pathology, i hilinaʻi nui ma mutations

ʻO kēia kiʻekiʻe o? Acaeoey o ke lapaau i ho'āʻo ai i ka predisposition i kekahi mau maʻi a me ka hanana o ka maʻi ma kekahi mau makahiki i hiki e ku pono i ka hereditary aʻe, a me ke pio ana o na makua hereditary mea (chromosomes mutation). I ka lā ka mea, ua maopopo ia i lilo chromosomal mai i ke kumu o kāna hana i loko o nā nā loko, a kino nenoai, a me ka oolea o ka maʻi hilinaʻi nui ma luna o na mea he nui aʻe.

Chromosomal maʻi - "lani" hoopai a me ka hopena o ka 'ia?

Nā kumu o kēia 'ano o ka maʻi i kāna hana o ka' ole o ke kanaka chromosomes a hoʻololi i ko lakou helu. Mutations e kāhea kanaka chromosomal maʻi kānāwai i loko o ka germ keena o na makua (i loko o keia hihia i nā hoʻololi e e hōʻike 'ia ma nā mea a pau aeee i ke kino o ka mamo o) a ma na kahua o ka hoʻonaʻauao loa kakahiaka nui o embryonic? Acaeoey. Ma keia hihia, no ka aaiaoe study loli e e 'akomi i wale i loko o kekahi o na keena - mosaicism ia lŘlŘ. Ka oolea o ke 'aʻe' ana i na mea he nui ka mahalo i hilinaʻi nui ma luna o ka wahi ma a ua lilo o ka makua chromosomes, a pehea hai i kēia loli.

Kina chromosomes kānāwai i loko o ke keka chromosomes a me autosomes i loko, a me ka mea, i loko o nā hihia e hiki hoʻoponopono (mutations) me maikai me loli i loko o ka nui - he emi a māhuahua ma ka helu o nā moku halihali mokulele o hereditary 'ike. Ke uie kekahi hapanui hewahewa o chromosomal maʻi e luku lapaʻau hoike ana, a he mea he likeʻole ma waena o nā maʻi i i pili me lesions o na autosomes a me ke keka chromosome loli. Ma ka hihia mua i ka lapaʻau kiʻi o ka maʻi akaka no ka puka i loko o nā lā mua o ke olaʻana o ke keiki, oiai ka pathology o keka chromosomes hiki vividly hoikeia wale i ka wā o ka puberty ke keiki ka.

Kumu o ka chromosomal mai

Ma ka hapanui o na hihia, ke kumu o ka chromosomal mutations i io hopena o nā palapala ? Aneie aʻe ma luna o germ keena, a aaiaoe mea i kakauiaʻi maloko. Ā 'inoʻino kekahi aʻe paha e ionizing pāhawewe, kiʻekiʻe a me ka haahaa wela, Nine Inch konohiki, a me ai', mea hoʻomaʻi konohiki, a me ka loli ma ka pūnao ma ka meaola makua.

I ka wā o ka karyotype mea pono?

Ua Ua ho'āʻo ai i ka loli ma ka germ keena hiki ke loaa me ka elemakule, i mea aha "makahiki" o na makua ma ka 'ohana hoʻolālā' ole ma ke kilo i hāpai keiki pono, hoouna mai no aaiaoe aʻoaʻo 'ia. Ua pono ka chromosome haʻawina (karyotype study o ka wā e hiki mai makua) i ka noho'na makaainana i ulu abortions a me stillbirths, e like me ka mea kupono noiʻi i loko o ka hihia, ina ke kauka hāʻupu kekahi chromosomal abnormalities i loko o ke keiki.

ʻO kēia kiʻekiʻe o? Acaeoey o ke lapaau i hooiaio i kekahi, a me ka ia chromosomal maʻi i ke kauoha ae like me ka loli i loko o ka helu ana o chromosomes a me chromosome rearrangements i loko o ka ua hui. Oia maʻi kuhikuhi pili Down maʻi pale, i hiki ke kapa me he mahuahua (trisomy 21 hui o chromosomes), a me ka hoʻopili i ka "keu" 21 chromosome hui i ka 'ē aʻe. Ma keia hihia, ke kuka nei lakou i loko o ke alo o ke keiki i loko o ka 'ohana me keia aaiaoe pathology kōkua kilokilo i ka likelihood o ke ola i ke keiki.

Chromosomal maʻi - ka mea hiki ke hoola?

Kela kauka i mea e hana i kekahi chromosomal maʻi, walania iho la ia mea, hoʻoikaika ihola e ae aku i ka'ano'ē iapaau ana o nā mea maʻi mea,ʻaʻole hiki. Ia mea ke kumu o ka pio ana o autosomes paʻa symptomatic lapaʻau, ke hoʻololi wale i ka meaʻuʻuku loa, compensate ulu kāna hana. Ma kekahi hihia, e loaʻa nā mea maʻi mau mā, a me ka noʻonoʻo 'retardation, mā o ka mea'ōnaehana mānowai koko'ōnaehana, loli loa i loko o ka pūnao.

Lanakila ke keka chromosomes, no ka laʻana, trisomy o chromosome X, e hoike mai ai ia ia iho wale i loko o na kaikamahine ma luna o hiki i ka makahiki o ka puberty. I ka wā o ka maʻi mea pohihihi keia malformations loa a me kāna hana o ka moe differentiation i hoʻomaka ai i kekahi mea i hiki ke compensated hormonal ai '. Oe i ka maopopo i keia Inc i ole ia ma ka hereditary nakeke o ka halepaahao (na chromosomes iho), akā, e kōkua i ka Makuakane me ka haiahū kūmau i loko o ke kino ai 'a me ka noʻonoʻo' kūlana o ka hoʻomanawanui iki mai.