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Volumn 50, Issue 3, 1998, Pages 299-305

A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSFORMING GROWTH FACTOR ALPHA;

EID: 0032526776     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5273     Document Type: Article
Times cited : (45)

References (46)
  • 1
    • 0024432231 scopus 로고
    • Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate
    • Ardinger H. H., Buetow K. H., Bell G. I., Bardach J., Van Demark D. R., Murray J. C. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am. J. Hum. Genet. 45:1989;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    Van Demark, D.R.5    Murray, J.C.6
  • 5
    • 0025762595 scopus 로고
    • Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate
    • Chenevix-Trench G., Jones K., Green A. C., Martin N. Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate. Am. J. Hum. Genet. 48:1991;1012-1013.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 1012-1013
    • Chenevix-Trench, G.1    Jones, K.2    Green, A.C.3    Martin, N.4
  • 6
    • 0026620226 scopus 로고
    • Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci
    • Chenevix-Trench G., Jones K., Green A. C., Duffy D. L., Martin N. G. Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci. Am. J. Hum. Genet. 51:1992;1377-1385.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1377-1385
    • Chenevix-Trench, G.1    Jones, K.2    Green, A.C.3    Duffy, D.L.4    Martin, N.G.5
  • 7
    • 0029016538 scopus 로고
    • Complex segregation analysis in a sample of consutive newborns with cleft lip with or without cleft palate in Italy
    • Clementi M., Tenconi R., Collins A., Calzolari E., Milan M. Complex segregation analysis in a sample of consutive newborns with cleft lip with or without cleft palate in Italy. Hum. Hered. 45:1995;157-164.
    • (1995) Hum. Hered. , vol.45 , pp. 157-164
    • Clementi, M.1    Tenconi, R.2    Collins, A.3    Calzolari, E.4    Milan, M.5
  • 9
    • 0025807097 scopus 로고
    • Immunolocalisation of epidermal growth factor (EGF), EGF receptor and transforming growth factor alpha (TGFa) during murine palatogenesis in vivo and in vitro
    • Dixon M. J., Garner J., Ferguson M. W. J. Immunolocalisation of epidermal growth factor (EGF), EGF receptor and transforming growth factor alpha (TGFa) during murine palatogenesis in vivo and in vitro. Anat. Embryol. 184:1991;83-91.
    • (1991) Anat. Embryol. , vol.184 , pp. 83-91
    • Dixon, M.J.1    Garner, J.2    Ferguson, M.W.J.3
  • 10
    • 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 L. S., Conneally P. M., Mohr J. Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin. Genet. 32:1987;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
  • 11
    • 0026500144 scopus 로고
    • Familial recurrence - Pattern analysis of cleft lip with or without cleft palate
    • Farrall M., Holder S. Familial recurrence - Pattern analysis of cleft lip with or without cleft palate. Am. J. Hum. Genet. 50:1992;270-277.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 270-277
    • Farrall, M.1    Holder, S.2
  • 12
    • 0027467323 scopus 로고
    • Resolving an apparent paradox concerning the role of TGFA in CL/P
    • Farrall M., Buetow K. H., Murray J. C. Resolving an apparent paradox concerning the role of TGFA in CL/P. Am. J. Hum. Genet. 52:1993;434-436.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 434-436
    • Farrall, M.1    Buetow, K.H.2    Murray, J.C.3
  • 14
    • 0028145109 scopus 로고
    • Transforming growth factor alpha: A modifying locus for nonsyndromic cleft lip with or without cleft palate?
    • Field L. L., Ray A. K., Marazita M. L. Transforming growth factor alpha: A modifying locus for nonsyndromic cleft lip with or without cleft palate? Eur. J. Hum. Genet. 2:1994;159-165.
    • (1994) Eur. J. Hum. Genet. , vol.2 , pp. 159-165
    • Field, L.L.1    Ray, A.K.2    Marazita, M.L.3
  • 15
    • 0027440662 scopus 로고
    • Two-locus model of disease: Comparison of likelihood and nonparametric linkage methods
    • Goldin L. R., Weeks D. E. Two-locus model of disease: Comparison of likelihood and nonparametric linkage methods. Am. J. Hum. Genet. 53:1993;908-915.
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 908-915
    • Goldin, L.R.1    Weeks, D.E.2
  • 16
    • 0344312167 scopus 로고
    • Linkage analysis assuming a single-locus mode of inheritance for traits determined by two loci: Inferring mode of inheritance and estimating penetrance
    • Greenberg D. A. Linkage analysis assuming a single-locus mode of inheritance for traits determined by two loci: Inferring mode of inheritance and estimating penetrance. Am. J. Hum. Genet. 55:1990;834-840.
    • (1990) Am. J. Hum. Genet. , vol.55 , pp. 834-840
    • Greenberg, D.A.1
  • 18
    • 0002033556 scopus 로고
    • Evidence for an association between non-syndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4
    • Healey S. C., Mitchell L. E., Chenevix-Trench G. Evidence for an association between non-syndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4. Am. J. Hum. Genet. 55:1994.
    • (1994) Am. J. Hum. Genet. , vol.55
    • Healey, S.C.1    Mitchell, L.E.2    Chenevix-Trench, G.3
  • 19
    • 0026092169 scopus 로고
    • Cleft lip and palate: No evidence of linkage to transforming growth factor alpha
    • Hecht J. T., Wang Y., Blanton S. H., Michels V. V., Daiger S. P. Cleft lip and palate: No evidence of linkage to transforming growth factor alpha. Am. J. Hum. Genet. 49:1991;682-686.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 682-686
    • Hecht, J.T.1    Wang, Y.2    Blanton, S.H.3    Michels, V.V.4    Daiger, S.P.5
  • 20
    • 0027426277 scopus 로고
    • Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A
    • Hecht J. T., Wang Y., Connor B., Blanton S. H., Daiger S. P. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A. Am. J. Hum. Genet. 52:1993;1230-1233.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 1230-1233
    • Hecht, J.T.1    Wang, Y.2    Connor, B.3    Blanton, S.H.4    Daiger, S.P.5
  • 21
    • 85016750763 scopus 로고
    • Simple and rapid preparation of samples for PCR
    • New York: Stockton Press. p. 31-38
    • Higuchi R. Simple and rapid preparation of samples for PCR. PCR Technology. 1989;Stockton Press, New York. p. 31-38.
    • (1989) PCR Technology
    • Higuchi, R.1
  • 22
    • 0026763353 scopus 로고
    • Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and nonsyndromic cleft lip and palate
    • Holder S. E., Vintiner G. M., Farren B., Malcolm S., Winter R. M. Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and nonsyndromic cleft lip and palate. J. Med. Genet. 29:1992;390-392.
    • (1992) J. Med. Genet. , vol.29 , pp. 390-392
    • Holder, S.E.1    Vintiner, G.M.2    Farren, B.3    Malcolm, S.4    Winter, R.M.5
  • 23
    • 0029043080 scopus 로고
    • Associations between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population
    • Jara L., Blanco R., Chiffelle I., Palomino H., Carreno H. Associations between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population. Am. J. Med. Genet. 57:1995;548-551.
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 548-551
    • Jara, L.1    Blanco, R.2    Chiffelle, I.3    Palomino, H.4    Carreno, H.5
  • 26
    • 0027297643 scopus 로고
    • TGF alpha deficiency results in a hair follicle and eye abnormalities in targeted and waved-1 mice
    • Luettke N. C., Qiu T. H., Peiffer R. L., Oliver P., Smithies O., Lee D. C. TGF alpha deficiency results in a hair follicle and eye abnormalities in targeted and waved-1 mice. Cell. 73:1993;263-278.
    • (1993) Cell , vol.73 , pp. 263-278
    • Luettke, N.C.1    Qiu, T.H.2    Peiffer, R.L.3    Oliver, P.4    Smithies, O.5    Lee, D.C.6
  • 27
    • 0001251475 scopus 로고
    • Ecogenetics of congenital craniofacial malformation. International Committee on the Human Genome
    • Mehra S., Verma I. C. Ecogenetics of congenital craniofacial malformation. International Committee on the Human Genome. Am. J. Hum. Genet. 49:1991.
    • (1991) Am. J. Hum. Genet. , vol.49
    • Mehra, S.1    Verma, I.C.2
  • 28
    • 0030993005 scopus 로고    scopus 로고
    • Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: A reappraisal
    • Mitchell L. E. Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: A reappraisal. Genet. Epidemiol. 14:1997;231-240.
    • (1997) Genet. Epidemiol. , vol.14 , pp. 231-240
    • Mitchell, L.E.1
  • 29
    • 0026668465 scopus 로고
    • Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: A reanalysis
    • Mitchell L. E., Risch N. Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: A reanalysis. Am. J. Hum. Genet. 51:1992;323-332.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 323-332
    • Mitchell, L.E.1    Risch, N.2
  • 30
    • 0029050592 scopus 로고
    • Face facts: Genes, environment, and cleft
    • Murray J. C. Face facts: Genes, environment, and cleft. Am. J. Hum. Genet. 57:1995;227-232.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 227-232
    • Murray, J.C.1
  • 31
    • 84990763470 scopus 로고
    • Multipoint linkage analysis of genetically complex traits
    • Risch N., Giuffra L. Multipoint linkage analysis of genetically complex traits. Am. J. Hum. Genet. 47:1989;A197.
    • (1989) Am. J. Hum. Genet. , vol.47 , pp. 197
    • Risch, N.1    Giuffra, L.2
  • 32
    • 0025297086 scopus 로고
    • Overexpression of TGFα in transgenic mice: Induction of epithelial hyperplasia, pancreatic metaplasia, and carcinoma of the breast
    • Sandgren E. P., Luettke N. C., Palmiter R. D., Brinster R. L., Lee D. C. Overexpression of TGFα in transgenic mice: Induction of epithelial hyperplasia, pancreatic metaplasia, and carcinoma of the breast. Cell. 61:1990;1121-1135.
    • (1990) Cell , vol.61 , pp. 1121-1135
    • Sandgren, E.P.1    Luettke, N.C.2    Palmiter, R.D.3    Brinster, R.L.4    Lee, D.C.5
  • 34
    • 0345606720 scopus 로고
    • The human homolog of a sequence disrupted in a murine craniofacial dysmorphism maps to 6p: A candidate locus for nonsyndromic cleft lip/or palate
    • Scambler P. J., Heather L., Gorman P., Lindsay E., Yamamura K. I., Dixon M. The human homolog of a sequence disrupted in a murine craniofacial dysmorphism maps to 6p: A candidate locus for nonsyndromic cleft lip/or palate. Am. J. Hum. Genet. 51:1992;A50.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 50
    • Scambler, P.J.1    Heather, L.2    Gorman, P.3    Lindsay, E.4    Yamamura, K.I.5    Dixon, M.6
  • 35
    • 0031571130 scopus 로고    scopus 로고
    • Genetic heterogeneity and evidence of linkage to 6p23 in nonsyndromic cleft lip with or without cleft palate
    • Scapoli L., Pezzetti F., Carinci F., Martinelli M., Carinci P., Tognon M. Genetic heterogeneity and evidence of linkage to 6p23 in nonsyndromic cleft lip with or without cleft palate. Genomics. 43:1997;216-220.
    • (1997) Genomics , vol.43 , pp. 216-220
    • Scapoli, L.1    Pezzetti, F.2    Carinci, F.3    Martinelli, M.4    Carinci, P.5    Tognon, M.6
  • 36
    • 0031973663 scopus 로고    scopus 로고
    • Lack of linkage disequilibrium between transforming growth factor alpha Taq I polymorphism and cleft lip with or without cleft palate in families from northeastern Italy
    • Scapoli L., Pezzetti F., Carinci F., Martinelli M., Carinci P., Tognon M. Lack of linkage disequilibrium between transforming growth factor alpha Taq I polymorphism and cleft lip with or without cleft palate in families from northeastern Italy. Am. J. Med. Genet. 75:1998;203-206.
    • (1998) Am. J. Med. Genet. , vol.75 , pp. 203-206
    • Scapoli, L.1    Pezzetti, F.2    Carinci, F.3    Martinelli, M.4    Carinci, P.5    Tognon, M.6
  • 37
    • 0027358433 scopus 로고
    • Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL±P)
    • Shaw D., Ray A., Marazita M., Field L. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL±P). Am. J. Hum. Genet. 53:1993;1156-1157.
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 1156-1157
    • Shaw, D.1    Ray, A.2    Marazita, M.3    Field, L.4
  • 40
    • 0027305347 scopus 로고
    • Genetic variation in transforming growth factor alpha: Possible association of Bam HI polymorphism with bilateral sporadic cleft lip and palate
    • Stoll C., Quian J. F., Feringold J., Sauvage P., May E. Genetic variation in transforming growth factor alpha: Possible association of Bam HI polymorphism with bilateral sporadic cleft lip and palate. Hum. Genet. 92:1993;81-82.
    • (1993) Hum. Genet. , vol.92 , pp. 81-82
    • Stoll, C.1    Quian, J.F.2    Feringold, J.3    Sauvage, P.4    May, E.5
  • 42
    • 0018888103 scopus 로고
    • Segregation of HLA in sibs with cleft lip or cleft lip and palate: Evidence against linkage
    • Van Dyke D. C., Goldman A. S., Spielman R. S., Zmijewski C. M., Oka S. W. Segregation of HLA in sibs with cleft lip or cleft lip and palate: Evidence against linkage. Cleft Palate J. 17:1980;189-193.
    • (1980) Cleft Palate J. , vol.17 , pp. 189-193
    • Van Dyke, D.C.1    Goldman, A.S.2    Spielman, R.S.3    Zmijewski, C.M.4    Oka, S.W.5
  • 43
    • 0026684478 scopus 로고
    • Adequacy of single-locus approximations for linkage analyses of oligogenic traits
    • Vieland V. J., Hodge S. E., Greenberg D. A. Adequacy of single-locus approximations for linkage analyses of oligogenic traits. Genet. Epidemiol. 9:1992;45-59.
    • (1992) Genet. Epidemiol. , vol.9 , pp. 45-59
    • Vieland, V.J.1    Hodge, S.E.2    Greenberg, D.A.3
  • 44
    • 0026684102 scopus 로고
    • No evidence of linkage between the transforming growth factor alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate
    • Vintiner G. M., Holder S. E., Winter R. M., Malcolm S. No evidence of linkage between the transforming growth factor alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. J. Med. Genet. 29:1992;393-397.
    • (1992) J. Med. Genet. , vol.29 , pp. 393-397
    • Vintiner, G.M.1    Holder, S.E.2    Winter, R.M.3    Malcolm, S.4
  • 45
    • 0027295566 scopus 로고
    • Exclusion of candidate genes from a role in cleft lip with or without cleft palate: Linkage and association studies
    • Vintiner G. M., Lo K. K., Holder S. E., Minter R. M., Malcolm S. Exclusion of candidate genes from a role in cleft lip with or without cleft palate: Linkage and association studies. J. Med. Genet. 30:1993;773-778.
    • (1993) J. Med. Genet. , vol.30 , pp. 773-778
    • Vintiner, G.M.1    Lo, K.K.2    Holder, S.E.3    Minter, R.M.4    Malcolm, S.5
  • 46
    • 0021739540 scopus 로고
    • Population and family studies of HLA in Japanese with cleft lip and palate
    • Watanabe T., Ohishi M., Tashiro H. Population and family studies of HLA in Japanese with cleft lip and palate. Cleft Palate J. 21:1984;293-300.
    • (1984) Cleft Palate J. , vol.21 , pp. 293-300
    • Watanabe, T.1    Ohishi, M.2    Tashiro, H.3


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