Aaiaoe maʻi i ili. Lapaʻau a aaiaoe ikea ai

Mai na makua i ke keiki i loaʻa i wale i ka kekahi maka kala like 'ole, kiʻekiʻe paha kinona o ka maka, akā, i aaiaoe maʻi i ili. He aha mau mea? Pehea hiki au loaʻa iā lākou? He aha ka ka Mea Maluna o hereditary mai nei?

Nā maomeka o nā kūpuna mai

Mamua o ko laua kamailio ana i ka maʻi, he mea pono e maopopo mea aaiaoe hooilina. Nā 'ike e pili ana iā mākou ua hookomoia ma ka DNA lātoma, a he o ka kaulahao nā kānaka me lōʻihi o ka'amino nāʻakika. Ke alternation o kēia mau'amino nāʻakika mea kū hoʻokahi.

DNA ili aku ai ke koena i kapaʻia nā'ōewe. Kēlā me kēia'ōewe mea he holistic 'ike e pili ana i kekahi a oi symptoms o ke kino, i mai na makua i na keiki, e like me iliʻano, lauoho, ano moʻolelo, a no laila, ma luna o. D. ua pū i hiki Inā ka mea, e poino ole' aʻe 'ana o kā lākou hana ikea aaiaoe maʻi, i hiki ma ka'āina hoʻoili.

DNA ua hoʻonohonoho 'ia i loko o chromosomes 46 a 23 hui, kekahi o i ka moe. Chromosomes i kuleana no ka'ōewe haʻawina, ka hoʻopiliʻana, a me ke ola mai ka hewa. E like me ka hopena o ka fertilization i loko o kēlā mau mea, hoʻokahi chromosome mai o ka makua kāne a me kekahi, mai ka makuwahine.

Ma ke aha kekahi o na nā'ōewe makemake e Hoʻohaku, a me ka 'ē aʻe recessive a uhi pū. Simplistically, ina o kona makua kāne'ōewe no ka maka kala like 'ole, makemake e Hoʻohaku, i ke keiki e loaa mai ai iaʻu i kēia moʻolelo ka mai iā ia,ʻaʻole ia mai o ka makuahine.

aaiaoe maʻi

Ili maʻi ana ka wā i keʻano papa hana o ka pūnaewele a me ka EYI o ka 'ike aʻe' ana aaiaoe i hoʻomaka ai, a me mutation. Meaola kona'ōewe ua poino, e hele ia ma i kā lākou poʻe keiki ma ka like me ke olakino ukana.

Ma ka hihia ma ka'āno'ē'ōewe mea recessive, ka mea e ole hōʻike ma ka kekahi hanauna, akā, ka mea, i kona nā moku halihali mokulele. Hiki wale mai i ka Hoʻohaku'ōewe eʻaʻole e hōʻike i ka noho, ka wā i olakino'ōewe makemake kekahi e Hoʻohaku.

Ua ua manawa ike oi ma mua o 6000 aaiaoe maʻi. ikeia na mea o ia ma hope o kona mau makahiki 35, a me kekahi i loa haʻi ia iho i ka mea nana ka waiwai. Me ke alapine (frequency) like kiʻekiʻe hoikeia mimikō mellitus, obesity, psoriasis, Alzheimer ka maʻi, schizophrenia a me ka 'ē aʻe kāna hana.

Mea Maluna

Aaiaoe maʻi, ili, i ka nui helu o nāʻano likeʻole. E mahelehele au ia laua i kaawale pūʻulu hiki ke noʻonoʻo i ka 'aʻe' wahi, ke kumu, lapaʻau kiʻi, i ke ano o nā kūpuna mai.

Maʻi hiki e hoʻolaha e like me ke 'ano o ka hooilina, a mau wahi o ka hemahema'ōewe. No laila, e mea pono'ōewe ke aupuni 'i loko o ka' īnea a pili-moe chromosome (autosome), a me ia mea lumaʻi paha,ʻaʻole. Līkaia no ka maʻi:

• Autosomal Hoʻohaku - brachydactyly, arachnodactyly, ectopia o ka maka aniani.
• Autosomal recessive - albinism, muscular dystonia dystrophy.
• Limited papahele (loaʻa nā wale na wahine a me na kanaka) - hemophilia A a me B, kala like 'ole makapo, lōlō, posapahate mimikō.

Laupaʻi a qualitative Mea Maluna o hereditary maʻi e hōʻike ana aaiaoe, chromosomal a me mitochondrial ano. Ka hope hoʻi kēia i ka DNA i loko o ka mitochondria kāna hana ma waho o ka Kernel. Ka mua mau ana i loko o ka DNA, i ua aia i loko o ka halepaahao nucleus, a i kekahi mau subspecies:

kumu o ka

Mākou nā'ōewe kamaʻilioʻana, e hoahu ike ole wale, akā, no hoi, e hoʻololi ia, e loaa hou ano. Kēia mea he mutation. Ua hana kākaʻikahi, ma kahi o 1 manawa no miliona hihia, a ua pū i hiki i ka pua, ina hanaia i loko o ka germ keena. No ka mea, hookahi'ōewe mutation alapine (frequency) o 1: 108.

Mutations mea he kūlohelohe, a lilo i kumu o ke evolutionary variability o nā mea e noho ana. Ka mea hiki e kōkua maikaʻi a me nā palapala. Kekahi kōkua iā mākou e pono ke hakuloli i ka 'āina a me ka aoao o ke ola (no ka laʻana, kū'ē i ka manamana nui), kekahi alakai i ka maʻi.

Ka hanana o abnormalities ma'ōewe ka mämä holo i ka physical, Nine Inch a me liluwelo mutagenic aʻe. Keia waiwai ua lilo kekahi alkaloids, nitrates, nitrites, kekahiʻai mea hoʻonui, pesticides, nā'uheheʻe a me ka aila me nā huahana.

Mawaena o ke kino ai 'aʻe i ionizing a me radioactive pāhawewe, ultraviolet kukuna, excessively kiʻekiʻe a me ka haahaa mahana. Like liluwelo kumu i ka rubella mea hoʻomaʻi, D.ʻo Waimānalo antigens, a no laila, ma luna o.

aaiaoe predisposition

Na makua ho ololi i iā mākou,ʻaʻole wale nō i ka hoʻonaʻauao 'ana. Ua ua ike ia kekahi kanaka i ka nui wale o ka hanana o kekahi mau mai ma mua o kekahi no o nā kūpuna mai. Aaiaoe predisposition i ka maʻi ia lŘlŘ ia kekahi mai o ka 'ohana o ka' aʻe i loko o nā nā'ōewe.

Ka pilikia o kekahi mau maʻi i loko o ke keiki hilinaʻi nui ma luna o kona mau 'ole kona ke keka, no ka mea, i hiki wale mai kekahi ma kekahi laina. Ua, ua hilinaʻi nui ma luna o ka kanaka lāhui kanaka, a ma luna o ka degere o kinship me ka hoʻomanawanui.

Inā he kanaka ua hānauʻia me ka mutation o ke keiki, alaila, i ka manawa o ka loaʻa maila iā ia i ka maʻi, he 50%. 'ōewe e pono e hoike ia ia iho i loko o kekahi alanui, i recessive, e like me ia ma ka hihia o ka mare ana me ke ola i ke kanaka, i kona manawa o ka hele mau pua e mai no 25%. Naʻe, ina o ka wahine e hoi hoopaa ia he recessive'ōewe, i ka manawa o kona hoike ana mai i loko o nā mamo e mahuahua hou i 50%.

Pehea e hōʻike maʻi?

Manawa e huai ae maʻi paha predisposition, e kōkua aaiaoe? Center. Nō kāu, e like me ka i loko o nā mea a pau nui kulanakauhale. Ma mua o kekahi Ikepili o ke kukakuka me kou kauka, e loaʻa mai ka ola pilikia i malama ma ka hoahanau.

Lapaʻau a aaiaoe anamanaʻo ua lawelawe 'ia ma ka lawe ana i ke koko hāpana. Ka hāpana Ua pono? Anoee i loko o ke keʻena hoʻokolohua no kekahi abnormalities. Prospective makua pele hele na kona kūkā ma hope o hāpai keiki. Naʻe, ka mea aaiaoe oaio e hele mai, a ma kona hoʻolālā.

Hereditary maʻi seriously pili i ka noʻonoʻo a me ka physical ola o ke keiki, he aha ka mea ola expectancy. Ka hapa nui o ia i hiki ole ke hana, a me kā lākou 'ia ua like wale nō ma ka' inikua 'ana. Nolaila, e hoomakaukau maikaʻi no ka mea, i kekahi kamaiki mua hapai ana.

Down ka maʻi pale

Kekahi o ka loa, he pono ole aaiaoe maʻi - Down maʻi pale. Ua lŘlŘ i ka 13 hihia mai o 10000. kēia mea he anomaly, ma a kekahi kanaka i 46, a me 47 chromosomes. Diagnose i ka maʻi pale hiki e koke i hanau.

Mawaena o ka papa kuhikuhiE symptoms o ka flattened maka, hoala kihi o na maka, he pōkole'ā'ī, a me ka nele o ka Muscle leo. Pepeiao i IeAUPIIe, IAa IO uuku incision kēlā mau maka, ole kinona o ka iwipoo.

E hoomanawanui i na keiki i comorbid kāna hana a me nā maʻi - pneumonia, SARS, etc. oe i 'ike exacerbations, e like me ke kumulilo o ka hālāwai hoʻolohe manaʻo, maka, hypothyroidism, naau maʻi ... Ka wā daunizm noʻonoʻo kūpono 'ana ua ka meheu o ia a me ka pinepine i koe ma ka pae ana o na makahiki ehiku.

Mau hana, kūikawā kino a me ka hoʻomākaukau nui ka hoʻoikaika 'ana i ka pilikia. He nui na hihia o kanaka me ka like maʻi pale e pono i ke ola kū kaʻawale, huli hana, a i loaʻa 'oihana pomaikai.

hemophilia

A pohihihi keia ili maʻi i loli ai na kanaka. Ua lŘlŘ hookahi i ka 10,000 hihia. Hemophilia ua ole ia, a kupu mai loli i loko o ka hoʻokahi'ōewe i loko o ka moe X chromosome. Women i wale nō nā moku halihali mokulele o ka maʻi.

I ka papa kuhikuhiE ano o ka nele o ke kumuʻiʻo, i mea kuleana no ke koko clotting. Ma keia hihia, a hiki i ka nīnūnē trauma ke kumu kahe ana ke koko i ole e pau. I kekahi manawa e hoike mai ai ia ia wale nō i ka lā ma hope o ka poino.

Pelekāne Koroleva Viktoriya i ka lawe ana o hemophilia. Ua hala aku i ka maʻi i na mea he nui o kona mau pua, a me ka Tsarevich Alexei - ke keiki a Tsar Rotehama II. Manawa i kona maʻi, hele mai ia e kapaia "aliʻi" a me "Victorian".

Angelman maʻi pale

I ka maʻi ua pinepine kapaia ka "maʻi pale o ka hauʻoli pēpē kIʻi" a me "maʻi pale Petrushka", no ka hoʻomanawanui iki mai i pinepine outbursts o kaʻakaʻaka a me ka minoʻaka, chaotic ka neʻe 'ana o na mea kaua. A pau keia anomaly ua wehewehe aku ma ka hiamoe o na kanaka haunaele a me ka noʻonoʻo kūpono 'ana.

Maʻi pale ia lŘlŘ koke no 10 000 hihia ma muli o ka nele ana o kekahi mau nā'ōewe, mai ka lima lōʻihi o chromosome 15. Angelman maʻi e hoʻomōhala ana i wale ina he mea ole nā'ōewe i loko o ka chromosome, ili mai o kona makuwahine. A hiki i ka ia nā'ōewe e noho e makou i ka paternal chromosome, he mea Prader-Willi maʻi pale.

Ka maʻi hiki ole ke ola loa, akā, i höʻike aku symptoms. E hana i kēia, alakaʻi physical ohe. A me massages. Hoopau ai i ke kuokoa, e hoomanawanui i mai i loaʻa ai, akā, no ka iapaau ana hiki ke lawe mālama o lakou iho.