Ukuguqulwa kwezakhi zofuzo Chromosomal: incazelo emfushane kanye ngezigaba

Kaningi yendalo mkhuba ngokuthi chromosome ukuguquka kwezakhi zofuzo. Lihlobene nokubhekana ubuso ushintsho isakhiwo noma inani lezakhi zofuzo futhi asihole ukuqhubeka ezihlukahlukene ukukhubazeka emzimbeni. Ukuguqula izakhi zofuzo wama-chromosomes zihlukaniswe kwesakhiwo (kukhona ushintsho isakhiwo yabo) kanye yezinombolo (libhekene ushintsho inani lezakhi zofuzo ufuzo umbhangqwana).

Bezakhiwe chromosome ukuguquka kwezakhi zofuzo. Lesi sifo, okuyinto lihlotshaniswa ukudabuka futhi izingxenye okwalandela esibophezelayo wama-chromosomes, okuholela ekushintsheni kokuqala zofuzo. Zingaba:

- ukulinganisela - kulokhu bayantuleka noma ngokweqile nesidoda okunikelwe, ngakho ezimweni eziningi azibonakali. Kodwa kukhona ingozi enkulu yokudlulisela i isethi ofanele nesidoda okunikelwe zizalela.

- ongenakulinganisela - kulesi simo, umntwana ongakazalwa enezinto eziningi pathologies ezinzima.

Kukhona ngezindlela ezilandelayo yezinguquko chromosome isakhiwo:

• Okususiwe - ukuguquka kwezakhi zofuzo chromosomal okuhlotshaniswa chromosomal ikhefu sendikimba ukulahlekelwa ingxenye yalo ebalulekile. Izinguquko ezinjalo, ngakho kungaholela emiphumeleni engathí sina, futhi kwezinye izimo ebulalayo.
• Duplications - ukuguquka kwezakhi zofuzo okuhlotshaniswa ne kabili endaweni ethile-DNA, kungekho zokugula sina.
• Translocation - Kwenziwa ngaso ikhefu Ama-chromosomes e emibili elandelanayo. Ngenxa yalokho, i-chromosome amabii bashintshisane amayunithi abo, ukwakha iqoqo elisha zofuzo.
• Insetsii - libhekene kwesigaba ukudluliselwa komunye chromosome kwenye.
• Kombhala - uma ukuguquka kwezakhi zofuzo-chromosome yakha igebe kwenzeka ezindaweni ezimbili ngesikhathi esisodwa. Ngemva kwalokho, ingxenye ukuthi itholakala phakathi unokungaxhumani, liphenduka mayelana-eksisi, ukushintsha ukulandelana zofuzo.

Lenombolo chromosomal ukuguquka kwezakhi zofuzo. Njengoba sekushiwo, lolu hlobo yokwanda koshintsho ezihlobene ne ushintsho inani lezakhi zofuzo. Lezi zinhlobo ezilandelayo:

• Trisomy - kuguquka chromosomal, okuyinto kuhambisana ukubukeka echibini kwezakhi-chromosome eyengeziwe. Lokhu kwenzeka uma, phakathi cell division, indodakazi-chromosomes azingqubuzani. Izinguquko ezinjalo, ngakho imbangela kwezinso phenotypic. Ezinye trisomies ibangele ukufa fetus kusaqalwa sokuthuthuka. Izimbangela yokwanda koshintsho azinakho cacisa ngokugcwele.
• Monosomy - kuguquka chromosomal esibonakala by ukunyamalala komunye chromosome. Ezimweni eziningi, i umzimba okunjalo akukhona iphila, ngakho befa kusaqalwa yentuthuko sombungu.
• Poliplodiya - into ezingavamile kakhulu, okuyinto libhekene khona kuseli kathathu, futhi isethi ngezinye izikhathi ngisho quadruple lezakhi zofuzo. An umzimba abanokukhubazeka ezifana abakwazi ukuphila - noma efa ngaphambi kokuzalwa noma ngokushesha ngemva kwabo.
• izinguquko wenombolo kuma-chromosome ubulili - into lalivamile, okuyinto kuhambisana nokwanda inani lezakhi zofuzo zokugcina, pair 23.

ukuguqulwa kwezakhi zofuzo Chromosomal: izibonelo

imithi yesimanje uyazi Ezimweni eziningi abantwana abazalwa nge chromosomal zamehlo. Njengoba kushiwo ngaphambili, ezinye izakhi zofuzo okuqondiswa chromosomal kungabalimazi ukuphendula ebonakalayo ingxenye yomzimba, futhi amanye acebile nje ayihambiselani sokusinda. Kodwa kukhona sasivumela owaziwa nezifo ngenxa yezakhi zofuzo, okuyinto kuphakama ngokunembile ngenxa yezinguquko izinhlayiya eziyisisekelo zofuzo.

Ngokwesibonelo, i-Down Syndrome - trisomy 21 kuyinto pair of kuma-chromosome. ukuhlukumeza okunjalo kuhambisana azalwa naso kombungu wenhliziyo futhi isimiso sokujikeleza kwegazi, kanye izici ekubukekeni komuntu futhi retardation engqondo.

Patau Syndrome - trisomy ku 13 pair. Ehamba kwanda ukwephulwa ithambo okungafanele, izinguquko ukuma Yekhanda, polydactyl phezu imilenze noma izingalo (iminwe eziyisithupha), ephula izinhlelo senhliziyo futhi ethukile.

Turner syndrome - a monosomy 23 (ubulili) chromosome pair, okuholela umbungu owamukela oyedwa kuphela-X chromosome. Laba bantu ukuthuthukiswa kancane kohlelo zokuzala, futhi inkulumo ababuthakathaka ngezici ngokobulili yesibili.