DNA MARKERS IN DIAGNOSIS OF ADULT DOMINANT POLYCYSTIC KIDNEY-DISEASE

被引:0
作者
VENEZIANO, L
DANGELO, AR
BURRAI, L
PERUGIA, G
GENTILE, V
POTENZA, L
IAMPIERI, MP
NOVELLETTO, A
NOVELLI, G
FRONTALI, M
机构
[1] UNIV TOR VERGATA,DIPARTIMENTO BIOL CELLULARE & SALUTE PUBBL,ROME,ITALY
[2] CNR,IST MED SPERIMENTALE,ROME,ITALY
[3] UNIV URBINO,CATTEDRA GENET,I-61029 URBINO,ITALY
[4] UNIV TOR VERGATA,DIPARTIMENTO BIOL,ROME,ITALY
[5] UNIV ROME LA SAPIENZA,DIPARTIMENTO UROL,I-00185 ROME,ITALY
关键词
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY DISEASE; PRESYMPTOMATIC DIAGNOSIS; DNA; GENETIC HETEROGENEITY;
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
We report the results of a biological and molecular study carried out on 11 Italian families, with a total of 111 individuals in which adult dominant polycystic kidney disease segregates. A restriction fragment length polymorphism analysis was performed. Two families have shown a genetic heterogeneity even if not phenotypically different from the other ones: they resulted unlinked to 16p markers. A prenatal diagnosis has been performed in a family of the linked type.
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页码:57 / 59
页数:3
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