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71.
High frequency hearing loss correlated with mutations in the GJB2 gene 总被引:18,自引:0,他引:18
Wilcox SA Saunders K Osborn AH Arnold A Wunderlich J Kelly T Collins V Wilcox LJ McKinlay Gardner RJ Kamarinos M Cone-Wesson B Williamson R Dahl HH 《Human genetics》2000,106(4):399-405
Genetic hearing impairment affects approximately 1/2000 live births. Mutations in one gene, GJB2, coding for connexin 26 cause 10%-20% of all genetic sensorineural hearing loss. Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital hearing loss. The families were recruited from a hospital-based multidisciplinary clinic, which functions to investigate the aetiology of sensorineural hearing loss in children and which serves an ethnically diverse population. In 74 families (80 children), the aetiology was consistent with non-syndromic recessive hearing loss. Six different connexin 26 mutations, including one novel mutation, were identified. We show that GJB2 mutations cause a range of phenotypes from mild to profound hearing impairment and that loss of hearing in the high frequency range (4000-8000 Hz) is a characteristic feature in children with molecularly diagnosed connexin 26 hearing impairment. We also demonstrate that this type of audiology and high frequency hearing loss is found in a similar-sized group of deaf children in whom a mutation could only be found in one of the connexin 26 alleles, suggesting connexin 26 involvement in the aetiology of hearing loss in these cases. In our study of the M34T mutation, only compound heterozygotes exhibited hearing loss, suggesting autosomal recessive inheritance. 相似文献
72.
73.
74.
Molecular phylogenetics of Stenodermatini bat genera: congruence of data from nuclear and mitochondrial DNA 总被引:2,自引:1,他引:1
Van den Bussche RA; Baker RJ; Wichman HA; Hamilton MJ 《Molecular biology and evolution》1993,10(5):944-959
Within the tribe Stenodermatini the systematics of the complex of species
allied with the genus Artibeus has generated several alternative
phylogenetic hypotheses. The most recent treatment recognized four genera
(Artibeus, Dermanura, Enchisthenes, and Koopmania) and suggested that the
most recent common ancestor of these four genera would include the common
ancestor of all other currently recognized Stenodermatini genera except
Sturnira. To test this hypothesis, we examined an EcoRI-defined nuclear
satellite DNA repeat and 402 bp of DNA sequence variation from the
mitochondrial cytochrome b gene. Phylogenetic conclusions based on Southern
blot analyses, in situ hybridization, and mitochondrial DNA sequence data
indicate that Enchisthenes is not closely related to Dermanura, Artibeus,
or Koopmania and that Dermanura, Artibeus, and Koopmania shared a common
ancestor after diverging from the remainder of the Stenodermatini. If our
conclusions are correct, then justification for recognizing Dermanura and
Koopmania as generically distinct from Artibeus must be based on the
magnitude of difference that distinguishes each rather than on the
conclusion that to place them as congeneric with Artibeus creates a
paraphyletic taxon.
相似文献
75.
76.
Immunological similarities between specific chloroplast ribosomal proteins from Chlamydomonas reinhardtii and ribosomal proteins from Escherichia coli 总被引:11,自引:0,他引:11
Polyclonal antibodies were elicited against seven of the 33 different
proteins of the large subunit of the chloroplast ribosome from
Chlamydomonas reinhardtii. Three of these proteins are synthesized in the
chloroplast and four are made in the cytoplasm and imported. In western
blots, six of the seven antisera are monospecific for their respective
large subunit ribosomal proteins, and none of these antisera cross-reacted
with any chloroplast small subunit proteins from C. reinhardtii. Antisera
to the three chloroplast-synthesized ribosomal proteins cross-reacted with
specific Escherichia coli large subunit proteins of comparable charge and
molecular weight. Only one of the four antisera to the chloroplast
ribosomal proteins synthesized in the cytoplasm cross-reacted with an E.
coli large subunit protein. None of the antisera cross-reacted with any E.
coli small subunit proteins. On the assumption of a procaryotic,
endosymbiotic origin for the chloroplast, those chloroplast ribosomal
proteins still synthesized within the organelle appear to have retained
more antigenic sites in common with E. coli ribosomal proteins than have
those which are now the products of cytoplasmic protein synthesis. Antisera
to this cytoplasmically synthesized group of chloroplast ribosomal proteins
did not recognize any antigenic sites among C. reinhardtii cytoplasmic
ribosomal proteins, suggesting that the genes for the cytoplasmically
synthesized chloroplast ribosomal proteins either are not derived from the
cytoplasmic ribosomal protein genes or have evolved to a point where no
antigenic similarities remain.
相似文献
77.
78.
Anthers and ovules of Scabiosa columbaria L. were cultured in vitro to determine whether gametophytic cells would proliferate
and/or a protocol for plant regeneration could be developed. Several factors were tested, including explant type, donor plant,
cold pre-treatment, and medium composition. Callus induction frequency varied among treatments, indicated by significant effects
of explant type, medium composition, and their interactions. Histological analysis revealed numerous sites of callus induction,
however, gametophytic cells did not proliferate. Stepwise removal of growth regulators and simultaneous lowering of sucrose
from the nutrient medium, resulted in initiation of embryogenesis or shoot organogenesis, and allowed plant regeneration.
Under the conditions tested, regeneration capacity was donor related, because only material of one donor responded. Regenerants
were diploid (except one mixoploid individual), but showed various types of flower heads. They were probably of sporophytic
origin.
This revised version was published online in June 2006 with corrections to the Cover Date. 相似文献
79.
80.
Matthew N Ward Allison M Churcher Kevin J Dick Chris RJ Laver Greg L Owens Megan D Polack Pam R Ward Felix Breden John S Taylor 《BMC evolutionary biology》2008,8(1):210