Maladiile cromozomale umane
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MALADIILE CROMOZOMALE
UMANE
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Ce este o maladie genetica?
Raspuns: Orice boala care are la origine o modificare a informatiei genetice.
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Termenul de maladie genetica NU il putem inlocui cu maladie ereditara, deoarece NU toate modificarile informatiei genetice se transmit la descendenti!!!!!
In functie de nivelul la care se petrece alterarea materialului genetic avem:-maladii cromozomale;-maladii metabolice.
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Autozomii umani au
dimensiuni mari, deci
un nr. mare de gene.
Cauza aparitiei este
nondisjunctia
cromozomilor perechi
in timpul diviziunii
celulare.
ANOMALIILE AUTOZOMALE
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Ce sunt monosomiile?
Raspuns: Se caracterizeaza prin lipsa unui cromozom Antreneaza moartea timpurie a embrionului.
Cele mai frecvente aberatii cromozomale sunt trisomiile.
Trisomiile= prezenta unui cromozom suplimentar
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Trisomia 21= Sindrom Down Cromozomul 21 suplimentar poate fi liber sau translocat pe alt cromozom.
Indivizii afectati prezinta:-cap mic-ochii oblici-nas turtit la baza-urechi mici implantate mai jos-gat scurt-inapoiere mintala-piele uscata-degete scurte
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Trisomia 18= Sindromul Edwards
Indivizii afectati prezinta:-malformatii ale capului-malformatii ale toracelui, gatului-sunt inapoiati mintal -au deficiente neurosenzoriale-malformatii cardiace
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Trisomia 13= Sindromul Patau
Aceasta afectiune se manifesta prin numeroase malformatii ale scheletului si sistemului nervos central.
Dintre cele 3 trisomii prezentate, cea mai raspandita este Trisomia 21!!!!!
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Sindromul Cri du Chat- Reprezinta retructurarea cromozomala
cea mai cunoscuta, produsa prin delectia partiala a bratului scurt al cromozomului 5
- Aceasta aberatie determina:- -microcefalie;- -inapoiere mintala grava;- -malformatii ale laringelui;- -intarziere in crestere.
- Copii afectati prezinta un tipat caracteristic, asemanat cu mieunatul pisicilor.
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ANOMALIILE HETEROZOMALE
Cauza: nondisjunctia cromozomilor sexului in meioza.
Acest fenomen duce la formarea de gameti cu un numar aberant de cromozomi X si Y.
In urma fecundarii apar descendenti cu modificari numerice ale heterozomilor.
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Cele mai importante aberatii heterozomale sunt:
Sindromul Klinefelter-> Tipul heterzomilor: XXY ->Frecventa: 1,8% din nou-nascuti
Sindromul Dublul Mascul-> Tip heterozomi: XXYY -> Frecventa: 4/100.000
Sindromul Turner -> Tipul heterozomilor: X0 -> Frecventa: 1/15.000 nou nascuti
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Sindromul Klinefelter se caracterizeaza prin:
->fenotip normal->coeficient de inteligenta normal->glande mamare dezvoltate->sterilitate->obezitate
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Sindromul Dublul mascul se caracterizeaza prin:
-> inaltime peste medie->comportament agresiv->inapoiere mintala->atrofie testiculara->ginecomastie->azoospermie
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Sindromul Turner se caracterizeaza prin:
-> talie redusa, rara depasesc 145 cm->fata batranicioasa->gat scurt->inteligenta medie->sterilitate
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Cele mai cunoscute maladii metabolice ereditare sunt:
-polidactilia-sindactilia-albinismul-hemofilia-daltonismul
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Polidactilia
Se caracterizeaza prin prezenta unui deget supranumerar
Sindactilia
Se caracterizeaza prin alipirea unor degete
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Albinismul
Este o maladie recesiva.
Consta in lipsa pigmentului melanic din piele, par, iris.
Mutatiile genelor plasate pe cromozomul X se transmit prin fenomenul de sex-linkage.
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Hemofilia
-se manifesta prin incapacitatea de coagulare a sangelui-apartitia hematoamelor in cele mai mici traumatisme-mama transmite aceasta boala si se manifesta doar la descendentii de sex masculin-femeile sunt doar purtatoare-un exemplu celebru: familia regala britanica-regina Victoria a fost purtatoarea acestei boli pe care a transmis-o la unul dintre copiii ei- Regina Victoria este considerata “bunica hemofiliei”
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Daltonismul
Consta in incapacitatea persoanei afectate de a deosebi culoarea rosie de cea verde
Cauza: Lipsa pigmentului fotosensibil pentru rosu din celulele vizuale cu con !!!!!!!!!!!!
Daltonismul este provocat de o gena recesiva notatat cu d si plasata pe cromozomul X
Mama este purtatoarea genei si transmite boala fiilor ei.
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