메뉴 건너뛰기




Volumn 79, Issue 3, 2006, Pages 580-585

Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34

(19)  Radhakrishna, Uppala a,k   Ratnamala, Uppala a   Gaines, Mathew c   Beiraghi, Soraya d   Hutchings, David c   Golla, Jeffrey c   Husain, Syed A e   Gambhir, Prakash S f   Sheth, Jayesh J b   Sheth, Frenny J b   Chetan, Ghati K g   Naveed, Mohammed h   Solanki, Jitendra V i   Patel, Uday C i   Master, Dilipkumar C j   Memon, Rafiq a   Antonarakis, Gregory S k   Antonarakis, Stylianos E k   Nath, Swapan K c  


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLEFT LIP PALATE; FAMILIAL DISEASE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOME ANALYSIS; HAPLOTYPE; HIGH RISK PATIENT; HUMAN; HUMAN CELL; INDIAN; LINKAGE ANALYSIS; MULTIGENE FAMILY; NONSYNDROMIC CLEFT LIP AND PALATE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

EID: 33748653166     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/507487     Document Type: Article
Times cited : (30)

References (67)
  • 1
    • 0036556368 scopus 로고    scopus 로고
    • Gene/environment causes of cleft lip and/or palate
    • Murray JC (2002) Gene/environment causes of cleft lip and/or palate. Clin Genet 61:248-256
    • (2002) Clin Genet , vol.61 , pp. 248-256
    • Murray, J.C.1
  • 2
    • 1842422259 scopus 로고    scopus 로고
    • Genetics of cleft lip and palate: Syndromic genes contribute to the incidence of non-syndromic clefts
    • Stanier P, Moore GE (2004) Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet 13:R73-R81
    • (2004) Hum Mol Genet , vol.13
    • Stanier, P.1    Moore, G.E.2
  • 3
    • 23844475362 scopus 로고    scopus 로고
    • Primary dentition status and treatment needs of children with cleft lip and/or palate
    • Ankola AV, Nagesh L, Hedge P, Karibasappa GN (2005) Primary dentition status and treatment needs of children with cleft lip and/or palate. J Indian Soc Pedod Prev Dent 23:80-82
    • (2005) J Indian Soc Pedod Prev Dent , vol.23 , pp. 80-82
    • Ankola, A.V.1    Nagesh, L.2    Hedge, P.3    Karibasappa, G.N.4
  • 5
    • 0028980029 scopus 로고
    • The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24
    • Paavola P, Salonen R, Weissenbach J, Peltonen L (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 11:213-215
    • (1995) Nat Genet , vol.11 , pp. 213-215
    • Paavola, P.1    Salonen, R.2    Weissenbach, J.3    Peltonen, L.4
  • 6
    • 0027366186 scopus 로고
    • Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1
    • Dixon MJ, Dixon J, Houseal T, Bhatt M, Ward DC, Klinger K, Landes GM (1993) Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am J Hum Genet 52:907-914
    • (1993) Am J Hum Genet , vol.52 , pp. 907-914
    • Dixon, M.J.1    Dixon, J.2    Houseal, T.3    Bhatt, M.4    Ward, D.C.5    Klinger, K.6    Landes, G.M.7
  • 10
    • 0026769167 scopus 로고
    • The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1
    • Gorski SM, Adams KJ, Birch PH, Friedman JM, Goodfellow PJ (1992) The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. Am J Hum Genet 50:1129-1136
    • (1992) Am J Hum Genet , vol.50 , pp. 1129-1136
    • Gorski, S.M.1    Adams, K.J.2    Birch, P.H.3    Friedman, J.M.4    Goodfellow, P.J.5
  • 11
    • 0027328095 scopus 로고
    • The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X
    • Stanier P, Forbes SA, Arnason A, Bjornsson A, Sveinbjornsdottir E, Williamson R, Moore G (1993) The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. Genomics 17:549-555
    • (1993) Genomics , vol.17 , pp. 549-555
    • Stanier, P.1    Forbes, S.A.2    Arnason, A.3    Bjornsson, A.4    Sveinbjornsdottir, E.5    Williamson, R.6    Moore, G.7
  • 12
    • 0028957591 scopus 로고
    • Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred
    • Forbes SA, Richardson M, Brennan L, Arnason A, Bjornsson A, Campbell L, Moore G, Stanier P (1995) Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred. Hum Genet 95:342-346
    • (1995) Hum Genet , vol.95 , pp. 342-346
    • Forbes, S.A.1    Richardson, M.2    Brennan, L.3    Arnason, A.4    Bjornsson, A.5    Campbell, L.6    Moore, G.7    Stanier, P.8
  • 14
    • 0347040428 scopus 로고    scopus 로고
    • Association of non-syndromic cleft lip and cleft palate with microsatellite markers located in 6p
    • Carreno H, Paredes M, Tellez G, Palomino H, Blanco R (1999) Association of non-syndromic cleft lip and cleft palate with microsatellite markers located in 6p. Rev Med Chil 127:1189-1198
    • (1999) Rev Med Chil , vol.127 , pp. 1189-1198
    • Carreno, H.1    Paredes, M.2    Tellez, G.3    Palomino, H.4    Blanco, R.5
  • 15
    • 0034033146 scopus 로고    scopus 로고
    • Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs
    • Prescott NJ, Lees MM, Winter RM, Malcolm S (2000) Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet 106:345-350
    • (2000) Hum Genet , vol.106 , pp. 345-350
    • Prescott, N.J.1    Lees, M.M.2    Winter, R.M.3    Malcolm, S.4
  • 16
    • 0032526776 scopus 로고    scopus 로고
    • A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation
    • Pezzetti F, Scapoli L, Martinelli M, Carinci F, Bodo M, Carinci P, Tognon M (1998) A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation. Genomics 50:299-305
    • (1998) Genomics , vol.50 , pp. 299-305
    • Pezzetti, F.1    Scapoli, L.2    Martinelli, M.3    Carinci, F.4    Bodo, M.5    Carinci, P.6    Tognon, M.7
  • 21
    • 11144322225 scopus 로고    scopus 로고
    • Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and non-syndromic cleft lip with or without cleft palate, in an Italian population
    • Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F (2005) Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and non-syndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 76:180-183
    • (2005) Am J Hum Genet , vol.76 , pp. 180-183
    • Scapoli, L.1    Palmieri, A.2    Martinelli, M.3    Pezzetti, F.4    Carinci, P.5    Tognon, M.6    Carinci, F.7
  • 24
    • 0021015173 scopus 로고
    • Autosomal trisomy 18 and 13 syndromes in Ibadan, Nigeria
    • Adeyokunnu AA (1983) Autosomal trisomy 18 and 13 syndromes in Ibadan, Nigeria. Afr J Med Med Sci 12:81-89
    • (1983) Afr J Med Med Sci , vol.12 , pp. 81-89
    • Adeyokunnu, A.A.1
  • 32
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 33
    • 0022728801 scopus 로고
    • Effects of misspecifying genetic parameters in lod score analysis
    • Clerget-Darpoux F, Bonaiti-Pellie C, Hochez J (1986) Effects of misspecifying genetic parameters in lod score analysis. Biometrics 42:393-399
    • (1986) Biometrics , vol.42 , pp. 393-399
    • Clerget-Darpoux, F.1    Bonaiti-Pellie, C.2    Hochez, J.3
  • 34
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
    • (2002) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 35
    • 1642588402 scopus 로고    scopus 로고
    • How to model a complex trait. 2. Analysis with two disease loci
    • Strauch K, Fimmers R, Baur MP, Wienker TF (2003) How to model a complex trait. 2. Analysis with two disease loci. Hum Hered 56:200-211
    • (2003) Hum Hered , vol.56 , pp. 200-211
    • Strauch, K.1    Fimmers, R.2    Baur, M.P.3    Wienker, T.F.4
  • 37
    • 8844250042 scopus 로고    scopus 로고
    • Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis
    • Huang Q, Shete S, Amos CI (2004) Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis. Am J Hum Genet 75:1106-1112
    • (2004) Am J Hum Genet , vol.75 , pp. 1106-1112
    • Huang, Q.1    Shete, S.2    Amos, C.I.3
  • 43
    • 0024432231 scopus 로고
    • Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate
    • Ardinger HH, Buetow KH, Bell GI, Bardach J, VanDemark DR, Murray JC (1989) Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet 45:348-353
    • (1989) Am J Hum Genet , vol.45 , pp. 348-353
    • Ardinger, H.H.1    Buetow, K.H.2    Bell, G.I.3    Bardach, J.4    Vandemark, D.R.5    Murray, J.C.6
  • 44
    • 0023176710 scopus 로고
    • Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6
    • Eiberg H, Bixler D, Nielsen LS, Conneally PM, Mohr J (1987) Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet 32:129-132
    • (1987) Clin Genet , vol.32 , pp. 129-132
    • Eiberg, H.1    Bixler, D.2    Nielsen, L.S.3    Conneally, P.M.4    Mohr, J.5
  • 45
    • 0842327233 scopus 로고    scopus 로고
    • Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate
    • Blanton SH, Berlin T, Serna ME, Stal S, Mulliken JB, Hecht JT (2004) Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate. Am J Med Genet A 125:23-27
    • (2004) Am J Med Genet A , vol.125 , pp. 23-27
    • Blanton, S.H.1    Berlin, T.2    Serna, M.E.3    Stal, S.4    Mulliken, J.B.5    Hecht, J.T.6
  • 49
    • 0032400979 scopus 로고    scopus 로고
    • Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate
    • Yoshiura K, Machida J, Daack-Hirsch S, Paul SR, Ashworth LK, Hecht JT, Murray JC (1998) Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. Genomics 54:231-240
    • (1998) Genomics , vol.54 , pp. 231-240
    • Yoshiura, K.1    Machida, J.2    Daack-Hirsch, S.3    Paul, S.R.4    Ashworth, L.K.5    Hecht, J.T.6    Murray, J.C.7
  • 52
    • 4544297149 scopus 로고    scopus 로고
    • Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India
    • Field LL, Ray AK, Cooper ME, Goldstein T, Shaw DF, Marazita ML (2004) Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India. AmJ Med Genet A 130:265-271
    • (2004) AmJ Med Genet A , vol.130 , pp. 265-271
    • Field, L.L.1    Ray, A.K.2    Cooper, M.E.3    Goldstein, T.4    Shaw, D.F.5    Marazita, M.L.6
  • 53
    • 0016095459 scopus 로고
    • Trisomy for the proximal segment of the long arm of chromosome 13: A new entity?
    • Escobar JI, Yunis JJ (1974) Trisomy for the proximal segment of the long arm of chromosome 13: a new entity? Am J Dis Child 128:221-222
    • (1974) Am J Dis Child , vol.128 , pp. 221-222
    • Escobar, J.I.1    Yunis, J.J.2
  • 54
    • 0016096472 scopus 로고
    • Trisomy for the distal segment of chromosome 13: A new syndrome
    • Escobar JI, Sanchez O, Yunis JJ (1974) Trisomy for the distal segment of chromosome 13: a new syndrome. Am J Dis Child 128:217-220
    • (1974) Am J Dis Child , vol.128 , pp. 217-220
    • Escobar, J.I.1    Sanchez, O.2    Yunis, J.J.3
  • 55
    • 0017165540 scopus 로고
    • A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)
    • Jotterand M, Juillard E (1976) A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21). Hum Genet 33:213-222
    • (1976) Hum Genet , vol.33 , pp. 213-222
    • Jotterand, M.1    Juillard, E.2
  • 56
    • 0017644241 scopus 로고
    • Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy
    • Kaye CI, Booth CW, Meeker D, Nadler HL (1977) Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy. Cleft Palate J 14:244-248
    • (1977) Cleft Palate J , vol.14 , pp. 244-248
    • Kaye, C.I.1    Booth, C.W.2    Meeker, D.3    Nadler, H.L.4
  • 57
    • 0017157366 scopus 로고
    • Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations
    • Noel B, Quack B, Rethore MO (1976) Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet 9:593-602
    • (1976) Clin Genet , vol.9 , pp. 593-602
    • Noel, B.1    Quack, B.2    Rethore, M.O.3
  • 58
    • 0016211444 scopus 로고
    • Different forms of incomplete trisomy 13: Mosaicism and partial trisomy for the proxim
    • Schinzel A, Schmid W (1974) Different forms of incomplete trisomy 13: mosaicism and partial trisomy for the proxim. Humangenetik 22:287-298
    • (1974) Humangenetik , vol.22 , pp. 287-298
    • Schinzel, A.1    Schmid, W.2
  • 59
    • 0017228101 scopus 로고
    • Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: Report of three cases
    • Schinzel A, Hayashi K, Schmid W (1976) Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases. Hum Genet 32:1-12
    • (1976) Hum Genet , vol.32 , pp. 1-12
    • Schinzel, A.1    Hayashi, K.2    Schmid, W.3
  • 60
    • 0018651413 scopus 로고
    • Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q
    • Habedank M (1979) Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q. Hum Genet 52:91-99
    • (1979) Hum Genet , vol.52 , pp. 91-99
    • Habedank, M.1
  • 61
    • 0029143403 scopus 로고
    • Partial trisomy 13q identified by sequential fluorescence in situ hybridization
    • Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, Say B (1995) Partial trisomy 13q identified by sequential fluorescence in situ hybridization. Am J Med Genet 58:50-53
    • (1995) Am J Med Genet , vol.58 , pp. 50-53
    • Rao, V.V.1    Carpenter, N.J.2    Gucsavas, M.3    Coldwell, J.4    Say, B.5
  • 63
    • 0021276567 scopus 로고
    • The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation
    • Rivas F, Rivera H, Plascencia ML, Ibarra B, Cantu JM (1984) The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation. Hum Genet 67:86-93
    • (1984) Hum Genet , vol.67 , pp. 86-93
    • Rivas, F.1    Rivera, H.2    Plascencia, M.L.3    Ibarra, B.4    Cantu, J.M.5
  • 64
    • 0018233413 scopus 로고
    • Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation
    • Yanagisawa S, Yokoyama H, Agena N (1978) Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation. Hum Genet 45:345-350
    • (1978) Hum Genet , vol.45 , pp. 345-350
    • Yanagisawa, S.1    Yokoyama, H.2    Agena, N.3
  • 65
    • 0020644065 scopus 로고
    • Familial t(4;13) with abnormal offspring in three generations
    • Najafzadeh TM, Littman VA, Dumars KW (1983) Familial t(4;13) with abnormal offspring in three generations. Am J Med Genet 16:15-22
    • (1983) Am J Med Genet , vol.16 , pp. 15-22
    • Najafzadeh, T.M.1    Littman, V.A.2    Dumars, K.W.3
  • 66
    • 0035863597 scopus 로고    scopus 로고
    • Phylloid pattern of pigmentary disturbance in a case of complex mosaicism
    • Ribeiro Noce T, de Pina-Neto JM, Happle R (2001) Phylloid pattern of pigmentary disturbance in a case of complex mosaicism. Am J Med Genet 98:145-147
    • (2001) Am J Med Genet , vol.98 , pp. 145-147
    • Ribeiro Noce, T.1    De Pina-Neto, J.M.2    Happle, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.