IDENTIFICATION OF NEW MARKERS IN XP21 BETWEEN DXS28 (C7) AND DMD

被引:29
作者
WORLEY, KC
TOWBIN, JA
ZHU, XM
BARKER, DF
BALLABIO, A
CHAMBERLAIN, J
BIESECKER, LG
BLETHEN, SL
BROSNAN, P
FOX, JE
RIZZO, WB
ROMEO, G
SAKURAGAWA, N
SELTZER, WK
YAMAGUCHI, S
MCCABE, ERB
机构
[1] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030
[2] UNIV UTAH,SALT LAKE CITY,UT 84108
[3] UNIV MICHIGAN,DEPT HUMAN GENET,ANN ARBOR,MI 48109
[4] UNIV MICHIGAN,DIV PEDIAT GENET,ANN ARBOR,MI 48109
[5] SUNY STONY BROOK,DEPT PEDIAT,STONY BROOK,NY 11794
[6] DRISCOL FDN CHILDRENS HOSP,CORPUS CHRISTI,TX 78466
[7] SCHNEIDER CHILDRENS HOSP,NEW HYDE PK,NY 11042
[8] VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,DEPT PEDIAT,RICHMOND,VA 23298
[9] IST GIANNINA GASLINI,GENET MOLEC LAB,I-16148 GENOA,ITALY
[10] NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,DIV INHERITED METAB DIS,KODAIRA,TOKYO 187,JAPAN
[11] UNIV COLORADO,DENVER,CO 80202
[12] GIFU UNIV,SCH MED,GIFU 500,JAPAN
关键词
D O I
10.1016/0888-7543(92)90007-F
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Characterization of Xp21 distal to Duchenne muscular dystrophy (DMD) in the region containing the genes for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GKD) has been limited due to a paucity of probes. Two probes were localized between DXS28 (C7) and AHC, the yeast artificial chromosome insert YHX39 (DXS727) and the polymorphic phage clone QST59 (DXS319). A genomic clone, FT1 (DXS726), 3′ to DMD, was also characterized. Portions of the three probes were sequenced and primer pairs were generated to amplify a sequence-tagged site within each probe. Amplification of DNA from patients confirmed the deletion results obtained by Southern blot analysis, and these three sequence-tagged sites were successfully combined for triplex PCR. In addition to facilitating molecular genetic diagnosis in Xp21, these probes can be used to identify additional YACs and other probes to further increase the genomic information and diagnostic capabilities in this region. © 1992.
引用
收藏
页码:957 / 961
页数:5
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