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. 2011 Jun 30;40(2):34–48.

Table 1:

The list of 15 DFNB loci screened in this study. The corresponding genes and details of screening markers are shown. Categories and functions of their encoded proteins are mentioned (52)

Locus (gene), Physical location(bp), Category& function Marker Physical position (bp) PCR product range Forward primer (5′→3′) Reverse primer (5′→3′)
DFNB1(GJB2, GJB6)
GJB2: 20761602..20767114
GJB6: 20796101..20806534)
Ion homeostasis proteins: Connexins
D13S1236 22696180–22696305 108–132 GCACTTGGCCTGGGTAA AAGGGGCTGGCTCTTCA
D13S1275 - 180–214 ATCACTTGAATAAGAAGCCATTTG CCAGCATGACCTTTACCAG
D13S175 20848506–20848618 101–113 TATTGGATACTTGAATCTGCTG TGCATCACCTCACATAGGTTA
DFNB2(MYO7A)
76839310..76926286)
Hair bundle morphogenesis proteins: Motor proteins
D11S4179 76396260–76396495 200–256 GGATGTAAGAGTAACTGGCTCCG GAAAATGTTCTGCCTGAGGG
D11S4186 76968518–76968685 154–175 ATTCTCCCAATCTATCGCTC GGGCAGTAATGATGATGTG
D11S4079 77119447–77119701 217–265 CAGCAAGATCCTGTCTCAA CTCCTTAAAGTGGGGGAGTT
D11S911 77448583–77448769 159–203 CTTCTCATGCTTGACCATTT CTTCTGAACAATTGCCACAT
DFNB3(MYO15A)
18012020..18083116)
Hair bundle morphogenesis proteins: Motor proteins
D17S921 14260705–14260882 169–185 CTTGGACTCCTACAAATCCTGGCA GGCCACCATAATCATGTCAGACAAT
D17S953 16102497–16102619 119–131 ACTATCCGCCCAATACA AAGGGCTTGCTTTGAC
D17S2196 17264482–17264618 139–163 CCAACATCTAGAATTAATCAGAATC ATATTTCAATATTGTAACCAGTCCC
DFNB4 (SLC26A4)
107301080..107358254)
Ion homeostasis proteins: Ion channels
D7S2420 106889928–106890211 240–290 CCTGTATGGAGGGCAAACTA AAATAATGACTGAGGCTCAAAACA
D7S496 107154713–107154849 129–141 AACAACAGTCAACCCACAAT GCTATAACCTCATAANAAACCAAAA
D7S2459 107331501–107331642 140–152 AAGAAGTGCATTGAGACTCC CCGCCTTAGTAAAACCC
D7S2456 107683218–107683460 238–252 CTGGAAATTGACCTGAAACCTT ACAGGGGTCTCTCACACATATTA
D7S2425 108347079–108347322 234–246 CTAGTCCTGAGAAGACATTACCC CCTGTTTCAGATGTTTTATCCA
DFNB6 (TMIE)
46742823..46752413)
Poorly understood function: integral membrane protein
D3S3658 40903258–40903371 104–126 AAAAGTTAGCAAACACAATCCTATC CTGGACTAAATCTAAGTTGGTTATG
D3S2420 48067370–48067462 93–108 ACAAGTGCGAAACTCTGCCT CAGGAGCCTCTAAGTCAGCA
DFNB7/11(TMC1
75136717..75451267)
poorly understood function:integral membrane protein
D9S1837 75185129–75185367 205–251 CATGATGGTGGTCTCTGG GGTGGGGCTCAAAGAGTAG
D9S1806 74201357–74201620 216–266 TTTTAGGTGTTCTCAGTACATGC GGGAGCAACATTTTGACATT
D9S1124 75224065–75224327 252–276 GGTGCCCACCATACACTACT TCTAATCCTTCCTTCCCTCG
D9S1876 75232791–75232938 132–152 GATGTACCCAGAGAAGTCTCG AGTGGTTACCATTTACCCAAG
D9S301 73802720–73802954 209–237 AGTTTTCATAACACAAAAGAGAACA ACCTAAATGTTCATCAAAAGAGG
D9S1822 74930323–74930483 157–163 AAGTTTGGCTTCTGCTGTAAGGGTC AATTCCCCCAGGCTGAGTG
D9S1799 73366891–73367055 139–178 TTGCCAACTATTTTAGCCC TGCAGTTTCAATCCACATC
DFNB8/10 (TMPRSS3)
43791999..43816200)
Poorly understood function: Serine protease
D21S1890 44848178–44848330 143–173 GGTCTGACCACAGATTTCC AAAAACACTCTGAACGATTAAGG
D21S1260 42796042–42796251 200–214 TCCAAGGGGTTCATCC CCCAAGGCACTGTTCC
DFNB9 (OTOF)
26680071..26781566)
Poorly understood function: Exocytosis at auditory ribon synapse
D2S365 28606342–28606533 164–204 ATGATTTGTGTACCTTATGTATGTT TCAATGGAGGAATCCTACTT
D2S2247 27303911–27304064 130–160 TCCATCTTTTGCGTGC CCGTGCTCTATGCCAG
D2S174 26839873–26840075 203–221 AGGCTGAATCCCACCTCC TTAGAGCACACATGGTCACTCC
D2S2223 26559144–26559325 182–200 CACTGCGCCTAGCCTC GGCGATTTATGAATAATCCTGC
DFNB12(CDH23)
73156704..73575704)
Hair bundle morphogenesis proteins: Adhesion proteins
D10S1432 74659396–74659569 157–185 CAGTGGACACTAAACACAATCC TAGATTATCTAAATGGTGGATTTCC
D10S1146 74659314–74659555 164–246 ATTGCACTCCAGCCTGGGT CACAATCCAATCACATGGATG
DFNB21(TECTA)
120973375..121061515)
Extracellular matrix proteins:Structural component tectorial membrane
D11S4107 121049124–121049321 172–212 TCATTCTACAAGACTAGCATTACC GCTTGATCATGGTGTATTATCTT
D11S925 120828264–120828438 172–199 AGAACCAAGGTCGTAAGTCCTG TTAGACCATTATGGGGGCAA
D11S912 128624097–128624205 101–123 TCGTGAGANTACTGCTTTGG TTTTGTCTAGCCATGATTGC
D11S4151 126292160–126292309 145–155 GTCTTCCCACCTTGGATATGGGTA AATGGGCACCTCCACCCTATTAGT
D11S4089 120989673–120989875 199–213 ATTCCTAGTTCCCTCATAAACACTG TAATCAAAGGCTGTAGTGAATTGG
D11S4110 126971672–126971780 93–107 TGAGCCTCCCAGTACCTACC GTTTGTGGCAGAGCCCTAAG
DFNB22(OTOA)
21689835..21772050)
Extracellular matrix proteins: Anchoring protein between cellular gels and non-sensory cells
D16S3046 20886507–20886610 84–108 CCCAGAATAAACTGCGTG TTCATGGACCCCCTATTG
D16S403 23037651–23037790 134–152 GTTTTCTCCCTGGGACATTT TATTCATTTGTGTGGGCATG
DFNB28 (TRIOBP)
38092995..38172563)
Hair bundle morphogenesis proteins: Proteins of the cytoskeleton
D22S1156 38381771–38381926 130–162 TGAGGTAGTCACACGAGGCA AATTCACTGGGCTCCGAGG
D22S1045 37536298–37536453 140–158 GCTAGATTTTCCCCGATGAT ATGTAAAGTGCTCTCAAGAGTGC
DFNB35(ESRRB)
76837726..76967208)
Transcription factors
D14S1015 92736133–92736396 224–264 GAATGCCATTATTTTGTCCT TTAGAAAACACCGAGCAGA
D14S77 73570540–73570772 203–251 GCGTGAGTCACTGTGCC CAGACAGAAATTAACCAGAGTTGAA
D14S1045 0 240–246 AGGGCTGGTGACAATG GTAAGGNCTTGGGTGG
D14S48 88428727–88429001 260–265 CATAAAAGGCTTATTGGTTTG CAAAACAGAGAACAGAGTAG
DFNB59 (PJVK)
179316163..179326113)
Poorly understood function: Signaling of hair cells and neurons
D2S2981 176173334–176173578 234–262 AAAATATGCAGGTAATGACTTGG CAAGCAAAACTGACAGGTAGG
D2S301 217887163–217887396 224–240 CATAGGACTGAAGGGGTGTA GGAAAATCTCGAATGTACCAAT
D2S2173 178445536–178445768 201–243 GGAGACAGAGAGTTTACATTTGAG GCCACACTTTCCTGAATC
D2S324 179656244–179656508 264–275 TTACCCACCGGGACAGT CAGCAAATGCTTCTAGGTCA
D2S307 204654566–204654784 205–221 CATGACCTGAAATAAACATAGACA AGCTTTTCCTGTAGGCTGTC
D2S2314 176862406–176862505 96–118 GGTGTCAGTGAGACCCTGT ATTTCTAGCGGCCCTAAAAC
DFNB63 (LRTOMT)
71791382..71821828)
leucine-rich methyltransferase
D11S1314 72323192–72323414 209–227 TTGCTACGCACTCCTCTACT GTGAAGGCAGGAAATGTGAC
D11S4132 119948397–119948596 176–214 GTGCAAGTTTTGGCTTCGTC ACTCCAGCCTGGGTGAAA
D11S4162 70975752–70976016 263–269 GTTCTCCAGAGAGACAGCAC GAGAGCAACACTATTGCCC
D11S4140 71945684–71945874 189–199 TGCAACAAGGTTCCACACT CTTATGGGTGAGGGCACAG
D11S4196 0 200–240 GAACGTTNTTCATGTAGGCGT TAATGGTCGCTGTCCC
D11S4184 72670843–72671103 263–277 CCCAGCCTTACATATTCC GCTGATGAGCAGAGGTAG

Physical positions were determined from the National Center for Biotechnology Information (NCBI) Build 37.1 sequence-based physical map (International Human Genome Sequence Consortium 2009).