Table 2

TMPRSS3 mutations in DFNB8/B10 families

FamilyMaximal simulated lod score2-150Mutation in
exon
Mutation2-151Amino acid substitutionPresence in normal control chromosomes2-152
PakistaniMuslim Indian
PKSN373.4121219T>CC407R0/1601/200
PKSR18b2.2121219T>CC407R0/1601/200
PKSR51a2.45325C>TR109W0/1220/196
PKB162.67581G>TC194F0/184NT2-153
  • 2-150 Maximal simulated lod scores were calculated using the FAST SLINK program.15 The disease allele frequency was set at 0.00001 and four equally frequent alleles were assumed for any marker. The disease was coded as fully penetrant, genetically homogeneous, and recessive.

  • 2-151 The nucleotide changes follow the nomenclature rules of Dunnen and Antonarakis.18 Nucleotide position relates toTMPRSS3 cDNA (GenBank accession numberAB038157).

  • 2-152 Pakistani controls were collected in Lahore, Pakistan. Muslim Indian controls were collected in northern India, near the Pakistani border.

  • 2-153 Not tested.