Phetoho ea chromosome: tlhaloso e khutšoanyane le lihlopha

Hangata tlhahong ho na le mohlolo o bitsoang ho fetoha ha chromosomal. E amahanngoa le phetoho sebopeho kapa palo ea li-chromosome mme e lebisa ho nts'etsopele e tsoelang pele ea mefokolo e fapaneng 'meleng. Liphetoho tsa li-chromosome li atisa ho aroloa ka li-chromosome tsa moralo (ho na le phetoho mohahong oa bona) le linomoro (tse khetholloang ke phetoho palo ea li-chromosomes ka li-genomes tse peli).

Liphetoho tsa mochine oa chromosomal. Ena ke tlōlo e amanang le ho khaola le ho tlama libaka tsa chromosome, ka lebaka la hore liphatsa tsa lefutso tsa pele li fetoha. Ba ka ba:

- ho leka-lekaneng - tabeng ena ha ho na phoso kapa ho fetela ho liphatsa tsa lefutso, kahoo maemong a mangata ha li bontšoe ka tsela leha e le efe. Empa ho na le kotsi e kholo ea ho fetisetsa sethaleng se sa lekanyetsoang sa liphatsa tsa lefutso nakong ea ho ikatisa.

- ho se leka-lekane - tabeng ena ngoana ea hlahileng o na le maloetse a mangata a matla.

Ho na le litsela tse latelang tsa ho fetola sebopeho sa li-chromosomes:

• Litlhahiso ke liphetoho tsa chromosomal tse amahanngoa le ho phatloha ha lesela la chromosomal le tahlehelo ea karolo ea eona ea bohlokoa. Liphetoho tse joalo li lebisa liphellong tse matla, 'me maemong a mang hape li bolaoa.
• Liphello ke liphetoho tse amanang le ho habeli ha sebaka se itseng sa DNA, 'me ho na le maloetse a mangata a le sieo.
• Translocation - e etsoa ka ho arohana ha li-chromosome tse peli tse haufi. Ka lebaka leo, li-chromosome ka bobeli li fetola likarolo tsa tsona, li etsa mofuta o mocha oa liphatsa tsa lefutso.
• Likokoanyana - tse khetholloang ka ho fetisoa ha karolo ea chromosome e 'ngoe ho e' ngoe.
• Inversion - ka mofuta ona oa phetoho, khefu ea chromosome e hlaha libakeng tse peli ka nako e le 'ngoe. Ka mor'a moo, sebaka se pakeng tsa khefu, se potoloha ho potoloha, se fetola liphatsa tsa lefutso.

Liphetoho tse ngata tsa chromosomal . Joalokaha ho se ho boletsoe, mefuta ena ea liphetoho e amana le phetoho palo ea li-chromosome. Ho na le mefuta e latelang:

• Trisomy ke phetoho ea chromosomal, e tsamaeang le ponahalo ea liphatsa tsa lefutso tsa chromosome e eketsehileng. Sena se etsahala haeba li-chromosome tsa morali li sa fapane nakong ea karohano ea sele . Liphetoho tse tšoanang li bakoa ke maloetse a phenotypic. Mathata a mang a lebisa ho lefu la intaluterine fetal e se e ntse e le mekhahlelo ea pele. Lisosa tsa phetoho ea phetoho ho isa qetellong ha e e-s'o hlakisoe.
• Monosomy ke phetoho ea chromosomal, e tsejoang ke ho nyamela ha chromosome e le 'ngoe. Maemong a mangata, sebōpeho se joalo ha se sebetse, ka hona se shoa mathatong a pele a tsoelopele ea embrone.
• Polyploidy ke ts'ebetso e sa tloaelehang haholo e khetholloang ke ho ba teng ka seleng ea makhetlo a mararo, 'me ka linako tse ling esita le a mane, e leng chromosome. Sebopeho se nang le mefokolo e joalo ha se khone ho phela - e shoa pele ho tsoaloa, kapa kapele ka mor'a moo.
• Liphetoho tse ngata ka li-chromosomes tsa thobalano - ketsahalo e tloaelehileng, e tsamaeang le keketseho ea li-chromosome ka ho qetela, bobeli ba bobeli.

Liphetoho tsa Chromosomal: mehlala

Meriana ea kajeno e tseba maemo a mangata a tsoalo ea bana ba nang le bokooa ba chromosomal. Joalokaha ho boletsoe pejana, liphetoho tse ling tsa chromosomal ha li bake likarabo tse bonahalang 'meleng,' me tse ling ha lia lumellane le pholoho. Empa ho boetse ho na le maloetse a tsebahalang a liphatsa tsa lefutso a tsohang hantle ka lebaka la phetoho ea liphatsa tsa lefutso.

Ka mohlala, Down syndrome ke trisomy ea lihlopha tse 21 tsa li-chromosome. Boloetse bo joalo bo tsamaisana le pelo ea pelo le bokooa ba motlakase , hammoho le likarolo tsa ponahalo ea motho le ho lieha ha tsoelo-pele ea kelello.

Lefu la Patau ke trisomy ka lihlopha tse 13. Ho felehetsa tlhekefetso e joalo ke tsoelo-pele e sa nepahalang ea masapo, liphetoho ka sebōpeho sa lehata, mnogopalosti maotong kapa matsoho (menoana e tšeletseng), tlhekefetso mosebetsing oa methapo ea pelo le methapo.

Phetoho ea Turner ke monosomy ea li-chromosome tse 23 (tsa thobalano), ka lebaka la hore lesea le fumanoa ke X e le 'ngoe feela ea chromosome. Batho ba joalo ba na le ts'ebetso e liehang ea mokhoa oa ho ikatisa le ponahalo e fokolang ea litšobotsi tsa bobeli tsa thobalano.