Liphatsa tsa lefutso

Liphatsa tsa lefutso ke thuto ea lefutso, mohato oa hore motsoali a fetisetse liphatsa tsa lefutso baneng ba bona. Ponahalo ea motho - bophahamo, 'mala oa moriri,' mala oa letlalo le 'mala oa mahlo - e khethoa ke liphatsa tsa lefutso. Litšobotsi tse ling tse anngoeng ke lefutso ke:

• Monyetla oa ho fumana mafu a itseng
• Bokgoni ba kelello
• Litalenta tsa tlhaho

Tloaelo e sa tloaelehang (anomaly) e fetisoang ke malapa (a futsitsoeng) a ka:

• Se ke oa ama bophelo ba hau kapa bophelo bo botle. Mohlala, tšobotsi e kanna ea baka karoloana e tšoeu ea moriri kapa tsebe e telele e fetang e tloaelehileng.
• E-na le litlamorao tse nyane feela, joalo ka bofofu ba mmala.
• E-ba le tšusumetso e kholo boleng ba hau kapa bolelele ba bophelo.

Bakeng sa mathata a mangata a liphatsa tsa lefutso, ho eletsoa ka tlholeho. Banyalani ba bangata ba kanna ba batla ho fumana tlhahlobo ea bakhachane haeba e mong oa bona a na le bothata ba lefutso.

Batho ba na le lisele tse nang le li-chromosome tse 46. Tsena li na le li-chromosome tse 2 tse khethollang hore na ke bong bofe (X le Y chromosomes), le lipara tse 22 tsa li-chromosome tsa nonsex (autosomal). Tse tona ke "46, XY" le tsehali ke "46, XX." Li-chromosome li entsoe ka lesela la tlhaiso-leseling ea lefutso e bitsoang DNA. Chromosome ka 'ngoe e na le likarolo tsa DNA tse bitsoang liphatsa tsa lefutso. Liphatsa tsa lefutso li na le boitsebiso bo hlokoang ke 'mele oa hao ho etsa liprotheine tse itseng.

Sehlopha se seng le se seng sa li-chromosome tsa autosomal se na le chromosome e le 'ngoe e tsoang ho mme le e' ngoe e tsoang ho ntate. Chromosome ka 'ngoe ka bobeli e na le tlhaiso-leseling e tšoanang; ke hore, para e 'ngoe le e' ngoe ea chromosome e na le liphatsa tsa lefutso tse tšoanang. Ka linako tse ling ho na le phapang e nyane ea liphatsa tsena tsa lefutso. Mefuta ena e fapana ka tlase ho 1% ea tatellano ea DNA. Liphatsa tsa lefutso tse nang le mefuta ena li bitsoa alleles.

Tse ling tsa mefuta ena li ka fella ka lefutso le sa tloaelehang. Phatsa e sa tloaelehang e ka lebisa ho protheine e sa tloaelehang kapa palo e sa tloaelehang ea protheine e tloaelehileng. Ka har'a li-chromosome tse ikemetseng, ho na le likopi tse peli tsa lefutso ka leng, e le 'ngoe e tsoa ho motsoali ka mong. Haeba le leng la liphatsa tsena tsa lefutso le sa tloaeleha, le leng le ka etsa protheine e lekaneng hore ho se ke ha hlaha lefu. Ha sena se etsahala, lefutso le sa tloaelehang le bitsoa le fetelletseng. Liphatsa tsa lefutso tse fetelletseng ho boleloa hore li futsitsoe ka mokhoa o fetelletseng oa autosomal kapa X. Haeba likopi tse peli tsa lefutso le sa tloaelehang li le teng, mafu a ka hlaha.

Leha ho le joalo, haeba ho hlokahala lefutso le le leng feela le sa tloaelehang ho hlahisa lefu, le lebisa lefung le leholo la lefutso. Tabeng ea bokuli bo ka sehloohong, haeba lefutso le le leng le sa tloaelehang le futsitsoe ho mme kapa ntate, ngoana o tla bontša lefu lena.

Motho ea nang le jini e le 'ngoe e sa tloaelehang o bitsoa heterozygous bakeng sa lefutso leo. Haeba ngoana a fumana liphatsa tsa lefutso tse sa tloaelehang ho tsoa ho batsoali ka bobeli, ngoana o tla bontša lefu lena mme o tla ba homozygous (kapa metsoako ea heterozygous) bakeng sa lefutso leo.

LITŠITSO TSA MABAKA

Hoo e ka bang maloetse ohle a na le karolo ea lefutso. Leha ho le joalo, bohlokoa ba karolo eo boa fapana. Mathata ao liphatsa tsa lefutso li phethang karolo ea bohlokoa (mafu a lefutso) a ka hlalosoa e le:

• Liphoso tsa lefutso le le leng
• Mathata a Chromosomal
• Ho etsa lintho tse ngata

Boloetse bo le bong ba lefutso (bo boetse bo bitsoa Mendelian disorder) bo bakoa ke bofokoli bo itseng liphatseng tsa lefutso. Liphoso tsa lefutso le le leng ha li fumanehe hangata. Empa kaha ho na le mafu a likete a tsejoang a liphatsa tsa lefutso a le mong, tšusumetso ea tsona e kopaneng e bohlokoa.

Mathata a mofuta o le mong a tšoauoa ka hore na a fetisoa joang ka malapeng. Ho na le mekhoa e tšeletseng ea lefa la lefutso le le leng:

• Autosomal e hlahelletseng
• Autosomal e fetelletseng
• X-e hokahane haholo
• X e hokahantsoeng haholo
• Lefa le amanang le Y
• Lefa la bakhachane (mitochondrial)

Phello e hlokometsoeng ea liphatsa tsa lefutso (ponahalo ea lefu lena) e bitsoa phenotype.

Lefa le ikhethileng la autosomal, ho sa tloaelehang kapa ho se tloaelehang hangata ho hlaha molokong o mong le o mong. Nako le nako ha motsoali ea amehileng, ekaba e motona kapa e motšehali, a ba le ngoana, ngoana eo o na le monyetla oa 50% oa ho futsa lefu lena.

Batho ba nang le kopi e le 'ngoe ea liphatsa tsa lefutso tse fetelletseng ba bitsoa bajari. Bajari hangata ha ba na matšoao a lefu lena. Empa, liphatsa tsa lefutso hangata li ka fumanoa ka liteko tse thata tsa laboratori.

Lefapheng la lefa la autosomal, batsoali ba motho ea amehileng ba kanna ba se bontše lefu lena (ke bajari). Ka karolelano, monyetla oa hore batsoali ba tsamaisang bana ba ka ba le bana ba hlahisang lefu lena ke 25% ka boimana ka bong. Bana ba batona le ba batšehali le bona ba ka angoa ka tsela e tšoanang. Hore ngoana a be le matšoao a lefu la autosomal le fetelletseng, ngoana o tlameha ho fumana liphatsa tsa lefutso tse sa tloaelehang ho batsoali ka bobeli. Hobane mathata a mangata a feteletseng ha a fumanehe hangata, ngoana o kotsing e kholo ea lefu le feteletseng haeba batsoali ba amana. Batho ba amanang le bona ba na le monyetla oa hore ba futsitse mofuta o tšoanang o sa tloaelehang ho moholo-holo a le mong.

Lefa le fetelletseng le amanang le X, monyetla oa ho fumana lefu lena o phahame haholo ho banna ho feta basali. Kaha liphatsa tsa lefutso tse sa tloaelehang li etsoa ka chromosome ea X (basali), banna ha ba e fetisetse ho bara ba bona (ba tla amohela chromosome ea Y ho bo-ntat'a bona). Leha ho le joalo, ba e fetisetsa ho barali ba bona. Ho basali, boteng ba X chromosome e le 'ngoe e tloaelehileng bo koahela litlamorao tsa chromosome ea X le lefutso le sa tloaelehang. Kahoo, hoo e ka bang barali bohle ba monna ea amehileng ba bonahala ba tloaelehile, empa kaofela ke bajari ba lefutso le sa tloaelehang. Nako le nako ha barali bana ba tsoala mora, ho na le monyetla oa 50% hore mora a fumane lefutso le sa tloaelehang.

Lefa le leholo le hokahantsoeng le X, lefutso le sa tloaelehang le hlaha ho basali leha ho ka ba le X ea chromosome e tloaelehileng. Kaha banna ba fetisetsa chromosome ea Y ho bara ba bona, banna ba amehileng ba ke ke ba ama bara. Barali bohle ba bona ba tla ameha, leha ho le joalo. Bara kapa barali ba basali ba anngoeng ba tla ba le monyetla oa 50% oa ho fumana lefu lena.

MEHLALA EA SINGLE GENE TŠITISO

Autosomal e fetelletseng:

• Khaello ea ADA (eo ka linako tse ling e bitsoang "moshemane ea nang le lefuba")
• Khaello ea Alpha-1-antitrypsin (AAT)
• Cystic fibrosis (CF)
• Phenylketonuria (PKU)
• Phokolo ea mali ea sele

X e hokahaneng hape:

• Duchenne mesifa dystrophy
• Haemophilia A.

Autosomal e hlahelletseng:

• Tloaelo ea hypercholesterolemia
• Lefu la Marfan

Boholo bo hokahanngoeng le X:

Ke mathata a fokolang feela, a sa tloaelehang, a hokahantsoeng le X. E 'ngoe ea tsona ke li-rickets tsa hypophosphatemic, tse tsejoang hape e le li-rickets tsa vithamine D.

LITŠITSO TSA KEROMOSHE

Mathateng a chromosomal, bothata bo bakoa ke ho ba ho feteletseng kapa ho haella ha liphatsa tsa lefutso tse fumanehang karolong ea chromosome kapa ea chromosome.

Mathata a Chromosomal a kenyelletsa:

• 22q11.2 lefu la microdeletion
• Down syndrome
• Lefu la Klinefelter
• Turner lefu

MATHATA A MULTIFACTORIAL

Maloetse a mangata a atileng haholo a bakoa ke ho sebelisana ha liphatsa tsa lefutso le lintho tse ngata tikolohong (mohlala, maloetse ho mme le meriana). Tsena li kenyelletsa:

• Sefuba
• Kankere
• Coronary lefu la pelo
• Lefu la tsoekere
• Hypertension
• Leqeba

LITLHAKISO TSA MITOCHONDRIAL TSE LING TSA DNA

Mitochondria ke meaho e menyenyane e fumanoang liseleng tse ngata tsa 'mele. Ba ikarabella bakeng sa tlhahiso ea matla ka har'a lisele. Mitochondria e na le DNA ea bona ea lekunutu.

Lilemong tsa morao tjena, mathata a mangata a bontšitsoe a bakoa ke liphetoho (liphetoho) ho DNA ea mitochondrial. Hobane mitochondria e tsoa feela leheng la mosali, mathata a mangata a amanang le DNA a fetisoa ho tsoa ho mme.

Mathata a amanang le DNA ea Mitochondrial a ka hlaha ka nako efe kapa efe. Ba na le matšoao le matšoao a fapaneng. Mathata ana a ka baka:

• Bofofu
• Ho lieha ho ntlafatsa
• Mathata a mala
• Ho lahleheloa ke kutlo
• Mathata a morethetho oa pelo
• Likhathatso tsa metabolism
• Seemo se sekgutshwane

Mathata a mang a boetse a tsejoa e le mathata a mitochondrial, empa ha a kenyeletse phetoho ea DNA ea mitochondrial. Mathata ana hangata a na le liphoso tsa lefutso. Ba latela mokhoa o tšoanang oa lefa joaloka mathata a mang a liphatsa tsa lefutso. Boholo ba tsona bo fetoha haholo ka likoloi.

Homozygous; Lefa; Heterozygous; Mekhoa ea lefa Lefa le mafu; Leikokobetso; Matšoao a lefutso

• Liphatsa tsa lefutso

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