Analysis of microsatellite markers for linkage studies of genetic deafness

Salvatore Melchionda, Paolo Fortina, Xavier P. Estivill, Victor Volpini, Nancy Govea, Montse Milà Saul Surrey, Antonio Totaro, Pietro Stanziale, Leopoldo Zelante, Paolo Gasparini

Research output: Contribution to journalArticle

Abstract

Genetic deafness is a common disorder affecting 1 in 2000 individuals. Its spectrum is broad and ranges from simple deafness without other clinical abnormalities to genetically determined syndromes in which deafness is one of a number of clinically recognizable signs. Overall the most common forms of genetic deafness are the non-syndromic neurosensory autosomal recessive deafness (NSRD) accounting for >75% of all cases. One of the major goal in this field is the identification and cloning of genes responsible for nonsyndromic deafness, in particular of those causing NSRD. Up to now, 12 different loci responsible for NSRD have been identified. In a recent study we demonstrated that DFNB1, a susceptibility locus responsible for NSRD mapping to the pericentromeric region of chromosome 13q, plays an important role in 60% of Caucasian families. Using a semi-automated procedure characterized by a robot station coupled with an automatic sequencing machine, and with a software able to rapidly and accurately analyze microsatellite markers, we have now analyzed polymorphic markers linked to DFNB2 and to DFNB4 in 40% of families previously ascertained not to be linked to DFNB1. Our data suggest that most likely an additional proportion of about 15% of cases could be associated to these last two loci.

Original languageEnglish
Pages (from-to)93-97
Number of pages5
JournalMinerva Biotecnologica
Volume9
Issue number2
Publication statusPublished - Jun 1997
Externally publishedYes

Fingerprint

Genetic Linkage
Cloning
Deafness
Chromosomes
Microsatellite Repeats
Genes
Robots
Organism Cloning
Software
Autosomal Recessive Deafness

Keywords

  • Deafness
  • DNA automatic analysis
  • Genetics
  • Microsatellite

ASJC Scopus subject areas

  • Biotechnology
  • Bioengineering
  • Applied Microbiology and Biotechnology

Cite this

Melchionda, S., Fortina, P., Estivill, X. P., Volpini, V., Govea, N., Surrey, M. M. S., ... Gasparini, P. (1997). Analysis of microsatellite markers for linkage studies of genetic deafness. Minerva Biotecnologica, 9(2), 93-97.

Analysis of microsatellite markers for linkage studies of genetic deafness. / Melchionda, Salvatore; Fortina, Paolo; Estivill, Xavier P.; Volpini, Victor; Govea, Nancy; Surrey, Montse Milà Saul; Totaro, Antonio; Stanziale, Pietro; Zelante, Leopoldo; Gasparini, Paolo.

In: Minerva Biotecnologica, Vol. 9, No. 2, 06.1997, p. 93-97.

Research output: Contribution to journalArticle

Melchionda, S, Fortina, P, Estivill, XP, Volpini, V, Govea, N, Surrey, MMS, Totaro, A, Stanziale, P, Zelante, L & Gasparini, P 1997, 'Analysis of microsatellite markers for linkage studies of genetic deafness', Minerva Biotecnologica, vol. 9, no. 2, pp. 93-97.
Melchionda S, Fortina P, Estivill XP, Volpini V, Govea N, Surrey MMS et al. Analysis of microsatellite markers for linkage studies of genetic deafness. Minerva Biotecnologica. 1997 Jun;9(2):93-97.
Melchionda, Salvatore ; Fortina, Paolo ; Estivill, Xavier P. ; Volpini, Victor ; Govea, Nancy ; Surrey, Montse Milà Saul ; Totaro, Antonio ; Stanziale, Pietro ; Zelante, Leopoldo ; Gasparini, Paolo. / Analysis of microsatellite markers for linkage studies of genetic deafness. In: Minerva Biotecnologica. 1997 ; Vol. 9, No. 2. pp. 93-97.
@article{21ba4655e88641f08bbab8cbb484a592,
title = "Analysis of microsatellite markers for linkage studies of genetic deafness",
abstract = "Genetic deafness is a common disorder affecting 1 in 2000 individuals. Its spectrum is broad and ranges from simple deafness without other clinical abnormalities to genetically determined syndromes in which deafness is one of a number of clinically recognizable signs. Overall the most common forms of genetic deafness are the non-syndromic neurosensory autosomal recessive deafness (NSRD) accounting for >75{\%} of all cases. One of the major goal in this field is the identification and cloning of genes responsible for nonsyndromic deafness, in particular of those causing NSRD. Up to now, 12 different loci responsible for NSRD have been identified. In a recent study we demonstrated that DFNB1, a susceptibility locus responsible for NSRD mapping to the pericentromeric region of chromosome 13q, plays an important role in 60{\%} of Caucasian families. Using a semi-automated procedure characterized by a robot station coupled with an automatic sequencing machine, and with a software able to rapidly and accurately analyze microsatellite markers, we have now analyzed polymorphic markers linked to DFNB2 and to DFNB4 in 40{\%} of families previously ascertained not to be linked to DFNB1. Our data suggest that most likely an additional proportion of about 15{\%} of cases could be associated to these last two loci.",
keywords = "Deafness, DNA automatic analysis, Genetics, Microsatellite",
author = "Salvatore Melchionda and Paolo Fortina and Estivill, {Xavier P.} and Victor Volpini and Nancy Govea and Surrey, {Montse Mil{\`a} Saul} and Antonio Totaro and Pietro Stanziale and Leopoldo Zelante and Paolo Gasparini",
year = "1997",
month = "6",
language = "English",
volume = "9",
pages = "93--97",
journal = "Minerva Biotecnologica",
issn = "1120-4826",
publisher = "Edizioni Minerva Medica S.p.A.",
number = "2",

}

TY - JOUR

T1 - Analysis of microsatellite markers for linkage studies of genetic deafness

AU - Melchionda, Salvatore

AU - Fortina, Paolo

AU - Estivill, Xavier P.

AU - Volpini, Victor

AU - Govea, Nancy

AU - Surrey, Montse Milà Saul

AU - Totaro, Antonio

AU - Stanziale, Pietro

AU - Zelante, Leopoldo

AU - Gasparini, Paolo

PY - 1997/6

Y1 - 1997/6

N2 - Genetic deafness is a common disorder affecting 1 in 2000 individuals. Its spectrum is broad and ranges from simple deafness without other clinical abnormalities to genetically determined syndromes in which deafness is one of a number of clinically recognizable signs. Overall the most common forms of genetic deafness are the non-syndromic neurosensory autosomal recessive deafness (NSRD) accounting for >75% of all cases. One of the major goal in this field is the identification and cloning of genes responsible for nonsyndromic deafness, in particular of those causing NSRD. Up to now, 12 different loci responsible for NSRD have been identified. In a recent study we demonstrated that DFNB1, a susceptibility locus responsible for NSRD mapping to the pericentromeric region of chromosome 13q, plays an important role in 60% of Caucasian families. Using a semi-automated procedure characterized by a robot station coupled with an automatic sequencing machine, and with a software able to rapidly and accurately analyze microsatellite markers, we have now analyzed polymorphic markers linked to DFNB2 and to DFNB4 in 40% of families previously ascertained not to be linked to DFNB1. Our data suggest that most likely an additional proportion of about 15% of cases could be associated to these last two loci.

AB - Genetic deafness is a common disorder affecting 1 in 2000 individuals. Its spectrum is broad and ranges from simple deafness without other clinical abnormalities to genetically determined syndromes in which deafness is one of a number of clinically recognizable signs. Overall the most common forms of genetic deafness are the non-syndromic neurosensory autosomal recessive deafness (NSRD) accounting for >75% of all cases. One of the major goal in this field is the identification and cloning of genes responsible for nonsyndromic deafness, in particular of those causing NSRD. Up to now, 12 different loci responsible for NSRD have been identified. In a recent study we demonstrated that DFNB1, a susceptibility locus responsible for NSRD mapping to the pericentromeric region of chromosome 13q, plays an important role in 60% of Caucasian families. Using a semi-automated procedure characterized by a robot station coupled with an automatic sequencing machine, and with a software able to rapidly and accurately analyze microsatellite markers, we have now analyzed polymorphic markers linked to DFNB2 and to DFNB4 in 40% of families previously ascertained not to be linked to DFNB1. Our data suggest that most likely an additional proportion of about 15% of cases could be associated to these last two loci.

KW - Deafness

KW - DNA automatic analysis

KW - Genetics

KW - Microsatellite

UR - http://www.scopus.com/inward/record.url?scp=12644253852&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=12644253852&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:12644253852

VL - 9

SP - 93

EP - 97

JO - Minerva Biotecnologica

JF - Minerva Biotecnologica

SN - 1120-4826

IS - 2

ER -