Abstract
Sixty-eight individuals from six Italian families in which autosomal dominant polycystic kidney disease (ADPKD) is segregating, were typed in DNA polymorphisms linked to the PKD1 locus on chromosome 16. A total of ten probes were used: 3' HVR, HMJ1, EKMDA, GGG1, 26-6, VK5B, 218EP6, 24.1, CRI090, and 41.1. Zmax was 4.502 at theta = 0.082 between ADPKD and 3' HVR, and 4.382, 1.947, and 1.576 between ADPKD and GGGI, 26.6, and 218EP6, respectively, at theta = 0.0. No clear evidence of genetic heterogeneity was found. Multipoint analyses were consistent with linkage to PKD1. Twenty-nine diagnoses and 16 exclusions made by ultrasonography were confirmed by genotype determinations; in two clinically uncertain cases, DNA analysis predicted one individual as being affected and the other unaffected.
| Original language | English |
|---|---|
| Pages (from-to) | 287-297 |
| Number of pages | 11 |
| Journal | Clinical Genetics |
| Volume | 40 |
| Issue number | 4 |
| Publication status | Published - 1991 |
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Keywords
- autosomal dominant polycystic kidney disease (ADPKD)
- genetic heterogeneity
- presymptomatic diagnosis
- RFLPs
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families. / Turco, A.; Peissel, B.; Gammaro, L.; Maschio, G.; Pignatti, P. F.
In: Clinical Genetics, Vol. 40, No. 4, 1991, p. 287-297.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families
AU - Turco, A.
AU - Peissel, B.
AU - Gammaro, L.
AU - Maschio, G.
AU - Pignatti, P. F.
PY - 1991
Y1 - 1991
N2 - Sixty-eight individuals from six Italian families in which autosomal dominant polycystic kidney disease (ADPKD) is segregating, were typed in DNA polymorphisms linked to the PKD1 locus on chromosome 16. A total of ten probes were used: 3' HVR, HMJ1, EKMDA, GGG1, 26-6, VK5B, 218EP6, 24.1, CRI090, and 41.1. Zmax was 4.502 at theta = 0.082 between ADPKD and 3' HVR, and 4.382, 1.947, and 1.576 between ADPKD and GGGI, 26.6, and 218EP6, respectively, at theta = 0.0. No clear evidence of genetic heterogeneity was found. Multipoint analyses were consistent with linkage to PKD1. Twenty-nine diagnoses and 16 exclusions made by ultrasonography were confirmed by genotype determinations; in two clinically uncertain cases, DNA analysis predicted one individual as being affected and the other unaffected.
AB - Sixty-eight individuals from six Italian families in which autosomal dominant polycystic kidney disease (ADPKD) is segregating, were typed in DNA polymorphisms linked to the PKD1 locus on chromosome 16. A total of ten probes were used: 3' HVR, HMJ1, EKMDA, GGG1, 26-6, VK5B, 218EP6, 24.1, CRI090, and 41.1. Zmax was 4.502 at theta = 0.082 between ADPKD and 3' HVR, and 4.382, 1.947, and 1.576 between ADPKD and GGGI, 26.6, and 218EP6, respectively, at theta = 0.0. No clear evidence of genetic heterogeneity was found. Multipoint analyses were consistent with linkage to PKD1. Twenty-nine diagnoses and 16 exclusions made by ultrasonography were confirmed by genotype determinations; in two clinically uncertain cases, DNA analysis predicted one individual as being affected and the other unaffected.
KW - autosomal dominant polycystic kidney disease (ADPKD)
KW - genetic heterogeneity
KW - presymptomatic diagnosis
KW - RFLPs
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M3 - Article
VL - 40
SP - 287
EP - 297
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 4
ER -