[Diagnosis of dominant renal polycystosis in adults by analysis of DNA polymorphism].
BACKGROUND
Adult renal polycystosis (ARP) is a dominant autosomic disease. The gene responsible for this disease in most families has been located on the short arm of chromosome 16 (16 p) by restriction analysis of the DNA polymorphisms (RFLP).


METHODS
The existence of several polymorphic markers flanking this gene permits the diagnosis of any member of an affected family. A series of proximal and distal genetic markers have been used to study the segregation of the disease in a group of families with more than one affected member.


RESULTS
The clinical and genetic results obtained from a study of 10 Spanish families with ARP have been reported. A high percentage of the members under 30 years of age (40%) did not present renal cysts.


CONCLUSIONS
Restriction analysis of DNA are fundamentally for a disease in which a high percentage of carriers remain asymptomatic within the reproductive age.
Servicio de Inmunología, Hospital Covadonga, Oviedo.
E
E
Coto
S
S
Aguado
J
J
Alvarez
S
S
Sanz de Castro
M
M
Arias
J
J
Fernández Toral
A
A
Benavides
I
I
Hernando
A
A
Plasencia
J
J
Herrera
D000328:Adult; D000367:Age Factors; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers
Diagnóstico de la poliquistosis renal dominante del adulto mediante análisis de los polimorfismos del ADN.