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Titolo:
FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ONCHROMOSOME-7, BAND Q21.3-Q22.1
Autore:
SCHERER SW; POORKAJ P; ALLEN T; KIM J; GESHURI D; NUNES M; SODER S; STEPHENS K; PAGON RA; PATTON MA; BERG MA; DONLON T; RIVERA H; PFEIFFER RA; NARITOMI K; HUGHES H; GENUARDI M; GURRIERI F; NERI G; LOVREIN E; MAGENIS E; TSUI LC; EVANS JP;
Indirizzi:
UNIV WASHINGTON,DEPT MED,DIV MED GENET,RG-25 SEATTLE WA 98195 UNIV WASHINGTON,DEPT MED,DIV MED GENET SEATTLE WA 98195 UNIV TORONTO,DEPT MOLEC & MED GENET TORONTO ON CANADA HOSP SICK CHILDREN,RES INST,DEPT GENET TORONTO M5G 1X8 ON CANADA ST GEORGE HOSP,SCH MED,SW THAMES REG GEN SERV LONDON ENGLAND STANFORD UNIV,DEPT GENET PALO ALTO CA 94304 STANFORD UNIV,DEPT PEDIAT PALO ALTO CA 94304 STANFORD UNIV,DEPT PATHOL PALO ALTO CA 94304 STANFORD UNIV,HOWARD HUGHES MED INST PALO ALTO CA 94304 UNIV ERLANGEN NURNBERG,INST HUMANGENET W-8520 ERLANGEN GERMANY CTR MED OCCIDENTE,DIV GENET GUADALAJARA MEXICO UNIV RYUKYUS,SCH MED,DEPT PEDIAT NISHIHARA OKINAWA 90301 JAPAN UNIV WALES HOSP,INST MED GENET CARDIFF CF4 4XN S GLAM WALES UNIV CATTOLICA SACRO CUORE,IST GENET MED ROME ITALY OREGON HLTH SCI UNIV,CTR CHILD DEV REHABIL PORTLAND OR 97201
Titolo Testata:
American journal of human genetics
fascicolo: 1, volume: 55, anno: 1994,
pagine: 12 - 20
SICI:
0002-9297(1994)55:1<12:FMOTAS>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
LONG-ARM DELETION; REGIONAL LOCALIZATION; INTERSTITIAL DELETION; CYSTIC-FIBROSIS; GENE; DNA; PROTEIN; HAND; CLONING; BETA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
54
Recensione:
Indirizzi per estratti:
Citazione:
S.W. Scherer et al., "FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ONCHROMOSOME-7, BAND Q21.3-Q22.1", American journal of human genetics, 55(1), 1994, pp. 12-20

Abstract

Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep mediancleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22. To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD. Molecular analysis resulted in the localization of 93 DNA markers to one of 10intervals surrounding the SHFD1 locus. The translocation breakpoints in four SHFD patients were encompassed by the smallest region of overlap among the SHFD-associated deletions. The order of DNA markers in the SHFD1 critical region has been defined as PON-D7S812-SHFD1-D7S811-ASNS. One DNA marker, D7S811, detected altered restriction enzyme fragments in three patients with translocations when examined by pulsed-field gel electrophoresis (PFGE). These data map SHFD1, a gene that is crucial for human limb differentiation, to a small interval in the q21.3-q22.1 region of human chromosome 7.

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Documento generato il 30/11/20 alle ore 03:36:20