He aha ke kumu aaiaoe maʻi

Aaiaoe maʻi nā he nui pūʻulu o ka poe mai, a ala mai, mai loli ma ka'ōewe 'ole. E ka loaʻa mai mea mau i nā kumu o kēia mau pathologies.

'ōewe o kanaka maʻi i ka hapanui, kena ae la ia e mutations ma ka mall nā'ōewe, a lawe mai lākou hana ma ka hoʻololi kemikala o polypeptides, i loko o nā hua'ōlelo - na nā polokina. Kekahi'ōewe mutation entails loli i loko o ka 'ole a me ka nui o ke kumuʻiʻo.

Oia maʻi hoʻomaka me ka iniiaiie hopena o ka mutant allele. Inā kekahi UOAAaOON e schematically eh ÷ ike ai 'ōewe mutations kanaka, ma laila e initially e he mutant allele, i kahe ana i loko o ka Hoʻololi 'iniiaiie huina hoonui, kūpono ma ka halepaahao a hele i ka lei o biochemical keʻano o ka hanaʻana, kūpono i alakai i ka loli ma nā loko, a nā'aʻaʻa, a laila, i ka pau meaola.

Noonoo pono i ka aaiaoe maʻi ma luna o ka hakakino 'ilikai, ke kēia Lolina hiki e hookoaia:

-? Iecaianoaaiiuo o ka oi nui o ka'ōewe huahana,

- ka hoʻololi kemikala o ka'āno'ē kumuʻiʻo

- i ka nele o ka-i? Iecaianoaaiiuo,

- like me ka? Iecaianoaaiiie o ka hoemi nui o iniiaiie huahana.

Aaiaoe maʻi 'Aʻole i pau i ka hakakino kiʻekiʻe. Lākou pathogenesis mau e hoʻomōhala i ka ke kelepona hele kiʻekiʻe. Ma keia e pili ana ia e hoʻomaopopo i ka wahi o ka noi o ka Hoʻololi ''ōewe i ka maʻi likeʻole hiki e nā kino ma ka mau, a ua kaawale ke kelepona hele nā hale e like me membranes, peroxisomes, lysosomes, mitochondria.

An nui hiʻona o aaiaoe abnormalities mea i kā lākou lapaʻau hoike ana, e like me ka uku a me ka oolea o ke? Acaeoey ua nānā 'ia ma ka pae o ka genotype o ka meaola, ka? Aneie keia, na makahiki o ke ahonui, a me ka mea e like.

A ano hiʻona o ka aaiaoe heterogeneity mea pathologies. Ua paipai i ka phenotypic olelo o ka maʻi i e ma muli o kaʻokoʻa mutations e hana ana i loko o ka hookahi'ōewe paha i loko o kekahi nā'ōewe. Kēia i mua i hoʻokumu i ka makahiki 1934 ma ka kaulana kanaka noiʻi i loko o ka mahinaʻai o aaiaoe? S.N.Davidenkovym.

Like no ka monogenic ano o aaiaoe abnormalities, e like me na kanawai o Mendel, ka mea, ua ili mai iā ia. I ka huli, monogenic pepa hiki ke puunaueia e ka 'ano o ka noho ana, oia hoi autosomal recessive, autosomal Hoʻohaku, a hui me ka Y- a X-chromosomes.

All aaiaoe maʻi hiki ke hoʻolaha ma ka helu o ke kailaʻae, a me ka nui pae ma keia hihia, e e ili metabolic maʻi. Kokoke a pau o ia no a hiki i ka autosomal recessive ano. Ke kumu o kēia mau pathological rula o ka nele o ka ua'ūhū i mea kuleana no ka hoʻololi kemikala o'amino nāʻakika. Mau nā maʻi e like me phenylketonuria, maka-cutaneous albinism a me ka homogentisuria.

Ke kakahiaka nui loa pae o aaiaoe mai pili me ka metabolic kāna hana. Glycogen maʻi, galactosemia - e pili ana i keia pae examples.

Ukali ma ka maʻi i mea pololei e pili pū ana i ka lipid pūnao - o Gaucher maʻi, Niemann-e koho i mai, a me ka e like.

Aaiaoe maʻi i loko o kānaka, okoa ka poe ua oleloia, e hoʻolaha

- hereditary maʻi o ka pyrimidine a me ka purine pūnao,

- pathologies pili me ka connective'aʻaʻa kāna hana,

- ili kāna hana a hoʻolahaʻia nā polokina,

- maʻi o ka pololei pilina i ka pūnao kāna hana i loko o erythrocytes,

- hereditary pathology ke hooheheeia e loaa hou mai,

- a me syndromes mea i malabsorption keʻano o ka hanaʻana i loko o ka digestive nenoaiu.

Ma waho aʻeo ia i ka luna o mākou hui ana o ka hoʻokumu o ka hereditary ano o ka maʻi ua ka nānā 'ana ma luna o lapaʻau a me ka moʻokūʻauhau hana.