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Valen&na	Toro	Pareja	
	
Molecular	Biology		
Third	semeste
INTRODUCTION		
ESTROGEN	RECEPTOR		
		
ü  Nuclear	receptor	
ü  Regulate	the	specific	genes	expression	
ü  Links:	Estrogen	or	similar	molecules	
ü  Binds	to	DNA	as	a	transcripBon	factor		
LAMININ	
		
ü  Glycoprotein		
ü  Is	composed	of	three	chains:	Alpha,	beta	
and	gamma
GENETIC	POLIMORPHISM	
		
ü  Is	a	difference	in	DNA	sequence	among	
populaBons.		
ü  It	may	be	the	result	of	chance	processes,	or	
may	have	been	induced	by	external	agents.	
RELATION		
The	relaBon	between	ER	and	Laminin	with	
geneBc	polimorphysm	depends	on	the	LAMC1/
ERa	gene	because	both	of	them	have	been	
associated	with	POP.
OBJECTIVE	
The	aim	of	this	study	was	to	evaluate	
a	possible	correlaBon	between	
polymorphism	in	LAMC1/ERα	genes		
and	the	risk	for	developing	POP.
METHODS	
POP	
study	
group	
Control	
group	
POP	
33
33
PCR	
	
ü  Polymerase	chain	reacBon	is	an	
enzymaBc	amplificaBon	technique	
of	specific	sequences	of	DNA.	
ü  	It	consists	to	increase	or	amplify	
an	specific	segment	of	DNA,	using	
a	polymerase
Restric&on	
enzymes	
	
ü  Are	obtained	from	bacterias.		
	
ü  They	recoignize	and	cut	specifc	
sequences	of	DNA	nucleoBdes.		
ü  This	sequences	are	different	in	
length	and	number	of	Pb	(pairs	of	
bases)
RESULTS	
•  For	evaluate	estrogen	receptor	alpha	geneBc	
polymorphism	they	used	a	G/AmutaBon	BtgI	
restricBon	enzyme.		
	
-	GG:	naBve	genotype		
-	GA:	mutant	heterozygote	genotype;	
	
ERα	gene&c	polymorphism
•  LAMC1	geneBc	polymorphism	was	
diagnosed	using	the	MaeII	restricBon	
enzyme.		
	
-	CC:	The	naBve	genotype	
-	CT:	The	mutant	heterozygote	genotype	
	
LAMC1	gene&c	polymorphism
Author		 Concept	
Weber	et	al.		 These	results	indicate	that	while	ERa	geneBc	polymorphism	
seems	to	be	associated	with	an	increased	risk	for	
developing	POP,	LAMC1	polymorphism	showed	no	
correlaBon	with	this	disorder.	
Bai	et	al.	 Found	significantly	decreased	estrogen	and	progesterone	
receptors	in	uterosacral	ligaments	of	prolapsed	uteri.	
Franz	et	al.	 Estrogen	receptors	are	thought	to	be	of	special	importance	
in	the	pathophysiology	of	POP.		
Chen	et	al.		 Reported	no	significant	clustering	of	the	
LAMC1	gene	among	102	Caucasian	and	63	Africane	
American-	females	with	POP	
DISCUSSION
CONCLUSION		
	
•  The	PCR	technique	is	a	good	method	to	idenBfy	
polymorphisms	in	ER	and	LAMC	genes	
	
•  The	geneBc	polymorphism	of	the	ER	gene	is	the	
one	that	is	really	involved	with	the	risk	of	
developing	POP
Estrogen receptor and laminin genetic polymorphism among women with pelvic organ prolapse

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Estrogen receptor and laminin genetic polymorphism among women with pelvic organ prolapse