Fine mapping of progressive pseudorheumatoid dysplasia: A tool for heterozygote identification

Genetic Testing

Volumn 3, Issue 4, 1999, Pages 329-333

  Alkbateeb, Asem ^a   Al Alami, Jamil ^a   Leal, Suzanne M ^b   El Shanti, Hatem ^a,c  

^a JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

^b ROCKEFELLER UNIVERSITY   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARAB; ARTICLE; CHONDRODYSPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; MALE; MARKER GENE; PEDIGREE;

JORDANIA;

EID: 0033431797     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1999.3.329     Document Type: Article

References (22)

1. AL-AWADI, S., FARAG, T., NAGUIB, K., EL-KHALIFA, M.Y., CUSCHIERI, A., HOSNY, G., ZAHRAN, M., and AL-ANSARI, A.G. (1984). Spondyloepiphyseal dysplasia tarda with progressive arthropathy. J. Med. Genet. 21, 193-196.
2. BASSAM, B.J., CAETANO-ANOLLES, G., and GRESSHOFF, P.M. (1991). Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal. Biochem. 196, 80-83.
3. CENTER FOR MEDICAL GENETICS, MARSHFIELD MEDICAL RESEARCH FOUNDATION, http://www.marshmed.org/genetics.
4. EL-SHANTI, H.E., OMARI, H.Z., and QUBAIN, H.I. (1997). Progressive pseudorheumatoid dysplasia: report of a family and review. J. Med. Genet. 34, 559-563.
5. EL-SHANTI, H., MURRAY, J., SEMINA, E., BEUTOW, K., SCHERPBIER, T., and AL-ALAMI, J. (1998). The assignment of the gene responsible for progressive pseudorheumatoid dysplasia to the long arm of chromosome six and examination of COL10A1 as a candidate gene. Eur. J. Hum. Genet. 6, 251-256.
6. FISCHER, J., URTIZBEREA, J.A., PAVEC, S., VANDIEDONCK, C., BRULS, T., SAKER, S., ALKATIP, Y., PRUD'HOMME, J.F., and WEISSENBACH, J. (1998). Genetic linkage of progressive pseudorheumatoid dysplasia to a 3 cM interval of chromosome 6q22. Hum. Genet. 103, 60-64.
7. GRIMBERG, J., NAWOSCHIK, S., BELLUSCIO, L., McKEE, R., TURK, A., and EISENBERG, A. (1989). A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res. 17, 8390.
8. KAIBARA, N., TAKAGISHI, K., KATSUKI, I., EGUCHI, M., MASUMI, S., and NISHIO, A. (1983). Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Skeletal Radiol. 10, 13-16.
9. KOZLOWSKI, K., KENNEDY, J., LEWIS, I.C. (1986). Radiographic features of progressive pseudorheumatoid arthritis. Australas. Radiol. 30, 244-250.
10. LATHROP, G.M., LALONEL, J.M., JULIER, C., and OTT, J. (1984). Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443-3446.
11. LEGIUS, E., MULIER, M., VAN DAMME, B., and FRYNS, J.P. (1993). Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height. Clin. Genet. 44, 152-155.
12. LEWKONIA, R.M., and BECH-HANSEN, N.T. (1992). Spondyloepiphyseal dysplasia tarda simulating juvenile arthritis: clinical and molecular genetic observations. Clin. Exp. Rheumatol. 10, 411-414.
13. MILLER, S.A., DYKES, D.D., and POLESKY, H.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215.
14. MURRAY, J.C., BEUTEW, K.H., WEBER, J.L., ET AL. (1994). A comprehensive human linkage map with centimorgan density. Science 265, 2049-2054.
15. RAZAI-DELUI, H., MAMOORI, G., SADRI-MAHVELATI, E., and NOORI, N.M. (1994). Progressive pseudorheumatoid chondrodysplasia: a report of nine cases in three families. Skeletal Radiol. 23, 411-419.
16. ROBINSON, D., TIELDER, M., HALPERIN, N., and COPELIOVITCH, L. (1989). Spondyloepiphyseal dysplasia associated with progressive arthropathy: an unusual disorder mimicking juvenile rheumatoid arthritis. Arch. Orthop. Trauma Surg. 108, 397-399.
17. SOOD, S., GUPTA, A.K., and BERRY, M. (1991). Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Indian J. Pedatr. 28, 671-673.
18. SPRANGER, J., ALBERT, C., SHILLING, F., and BARTSOCAS, C. (1983a). Progressive pseudorheumatoid arthropathy of childhood (PPAC) a hereditary disorder simulating rheumatoid arthritis (letter). Am. J. Med. Genet. 14, 399-401.
19. SPRANGER, J., ALBERT, C., SHILLING, F., BARTSOCAS, C., and STOSS, H. (1983b). Progressive pseudorheumatoid arthritis of childhood (PPAC) a hereditary disorder simulating rheumatoid arthritis. Eur. J. Pediatr. 140, 34-40.
20. TEEBI, A.S., and AL-AWADI, S.A. (1986). Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs (letter). J. Med. Genet. 23, 189-191.
21. WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH/MIT CENTER FOR GENOME RESEARCH. http://www-genome.wi. mit.edu.
22. WYNNE-DAVIES, R., HALL, B., and ANSELL, M.B. (1982). Spondyloepiphyseal dysplasia tarda with progressive arthropathy -a "new" disorder. J. Bone Joint Surg. Br. 64, 442-445.