[Molecular diagnosis of adult dominant polycystic kidney disease in the Canary Islands].
Adult dominant polycystic kidney disease is an hereditary condition responsible for 6% of end-stage renal failure in Spain. Two genes were located in chromosomes 16 and 4 as related to this age-dependent disease in the 90s (PKD1 and PKD2). The diagnosis can be easily achieved by sonographic study, but molecular analysis by means of linkage analysis has the advantage of an early diagnosis in asymptomatic genetic carriers, with a view to the preventive follow-up of these subjects and genetic counselling. In this paper we present the results of molecular analysis of 30 families with Adult Dominant Polycystic Kidney Disease (from the province of Las Palmas Spain), carried out linkage analysis with two series of microsatellite markers located within or in the vicinity ofPKD1 (D16S521, KG8, AC2.5, CW2, SM7) and PKD2 (D4S1538, D4S1534, D4S423,D4S414) genes. The objectives of the study were: first, to verify the informativeness, and therefore, the usefulness of these markers for family studies in our population; and second,to assess the sensitivity and specificity of the genetic analysis in our population. Most of the markers showed a high heterozygosity, comparable to data in other studies. Considering the alleles of the different markers together in a chromosome as an haplotype increased the informativeness of the markers, and allowed the unequivocal identification of genetic data in 97.7% of patients and 88.7% of healthy subjects. The sensitivity and specificity of the genetic analysis were 90.7% (CI 95%: 85.7-95.7) and 86.8% (CI 95%: 80.6-93.0), respectively.
Torres
M J
MJ
Unidad de Investigación, Hospital Universitario de Gran Canaria Dr. Negrin, Barranco de las Ballena s/n, 35010 Las Palmas de Gran Canaria.
Rodríguez Pérez
J C
JC
Hernández Socorro
C R
CR
Anabitarte
A
A
Caballero
A
A
Vázquez
C
C
Fernández-Burriel
M
M
Pérez Borges
P
P
Palop
L
L
D001266:Atlantic Islands / Q000453:epidemiology; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D042241:Early Diagnosis; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006977:Hypertension, Renal / Q000453:epidemiology / Q000209:etiology; D008126:Lod Score; D018895:Microsatellite Repeats; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D006435:Renal Dialysis; D012680:Sensitivity and Specificity; D050396:TRPP Cation Channels / Q000032:analysis*
D005819:Genetic Markers; D050396:TRPP Cation Channels