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91.
A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region 总被引:4,自引:0,他引:4
92.
In recent reports we described novel hybridization patterns (HP) corresponding to 22 potentially new HLA-B locus alleles in a panel of 547 subjects studied by PCR-SSOP. Three of them correspond to new subtypes of B35. To confirm the hybridization results we have isolated DNA from PBL and performed PCR, DNA cloning and nucleotide sequencing. One of the alleles, locally called B-3505v was found in three individuals: two Hispanic, one Caucasoid. It differs from B*3505 by 3 nucleotide substitutions that lead to changes in residues 94 (Ile > Thr), 95 (Ile > Leu) and 103 (Val > Leu). B-3505v differs from B*3501 in residues 97 and 103. Another allele called B-3508v, was found in 7 individuals, (6 of 122 Toba Indians, 1 of 18 Pilaga Indians). It differs from B*3509 in two silent nucleotide substitutions (codons 135 and 138) and in one substitution in residue 156 (Arg > Leu). The new allele has a hybrid sequence between B* 3508 and B*4801. A third subtype, locally called B-3504v, observed in two Hispanic individuals, is identical to B*3512. B*3512 differs from B*3504 by 3 nucleotides and one amino acid. Substitutions in residue 95 contribute to the structure of specificity pocket F, 97 to C and E, and 156 to pockets D and E. Therefore it is possible that some of the new alleles may have different peptide binding profiles. Since differences in residue 156 have been shown to affect allorecognition and mediate GvHD, identification of such variants may have important implications in transplantation and perhaps in studies of immune responses to peptides and pathogens. 相似文献
93.
94.
Sponseller BA Sparks WO Wannemuehler Y Li Y Antons AK Oaks JL Carpenter S 《Virology》2007,363(1):156-165
The principal neutralizing domain (PND) of equine infectious anemia virus (EIAV) is located in the V3 region of SU. Genetic variation in the PND is considered to play an important role in immune escape and EIAV persistence; however, few studies have characterized genetic variation in SU during the inapparent stage of disease. To better understand the mechanisms of virus persistence, we undertook a longitudinal study of SU variation in a pony experimentally inoculated with the virulent EIAV(Wyo). Viral RNA isolated from the inoculum and from sequential sera samples was amplified by RT-PCR, cloned, and individual clones were sequenced. Of the 147 SU clones obtained, we identified 71 distinct V3 variants that partitioned into five major non-overlapping groups, designated PND-1 to PND-5, which segregated with specific stages of clinical disease. Genotypes representative of each group were inserted into an infectious molecular clone, and chimeric viruses were tested for susceptibility to neutralization by autologous sera from successive times post-infection. Overall, there was a trend for increasing resistance to neutralizing antibody during disease progression. The PND genotype associated with recrudescence late in infection was resistant to both type-specific and broadly neutralizing antibody, and displayed a reduced replication phenotype in vitro. These findings indicate that neutralizing antibody exerts selective pressure throughout infection and suggest that viral strategies of immune evasion and persistence change in the face of an evolving and maturing host immune response. 相似文献
95.
Stankiewicz P Kulkarni S Dharmadhikari AV Sampath S Bhatt SS Shaikh TH Xia Z Pursley AN Cooper ML Shinawi M Paciorkowski AR Grange DK Noetzel MJ Saunders S Simons P Summar M Lee B Scaglia F Fellmann F Martinet D Beckmann JS Asamoah A Platky K Sparks S Martin AS Madan-Khetarpal S Hoover J Medne L Bonnemann CG Moeschler JB Vallee SE Parikh S Irwin P Dalzell VP Smith WE Banks VC Flannery DB Lovell CM Bellus GA Golden-Grant K Gorski JL Kussmann JL McGregor TL Hamid R Pfotenhauer J Ballif BC Shaw CA 《Human mutation》2012,33(1):165-179
We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers. 相似文献
96.
97.
H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes 总被引:2,自引:1,他引:2
The inactive X (Xi) differs from its active homologue (Xa) in a number of
ways, including increased methylation of CpG islands, replication late in S
phase, underacetylation of histone H4 and association with XIST RNA. Global
changes in DNA methylation occur relatively late in development, but the
other properties all change during or shortly after the establishment of Xi
and may play a role in the mechanism by which an inactive chromatin
conformation spreads across most of the chromosome. In the present report,
we use two human X;autosome translocation chromosomes to study the
spreading of inactive X chromatin across X;autosome boundaries. In one of
these chromosomes, t(X;6), Xp distal to p11.2 is replaced by 6p21.1-6pter
and, in the other, ins(X;16), a small fragment derived from 16p13 is
inserted into the distal third of Xq. In lymphoid cells from patients
carrying these translocations in an unbalanced form, Xi was shown by HUMARA
assay to be derived exclusively [t(X:6)] or predominantly [ins (X;16)] from
the derived X chromosome. We used a combination of immunolabelling and
RNA/DNA fluorescence in situ hybridization to define the distribution of
XIST RNA, deacetylated H4 and late-replicating DNA across the two derived X
chromosomes in inactive form. Within the limits of the cytogenetic
techniques employed, the results show complete coincidence of these three
parameters, with all three being excluded from the autosomal component of
the derived X chromosome.
相似文献
98.
Joyce JPA Bierbooms Inge MB Bongers Hans AM van Oers 《BMC medical informatics and decision making》2011,11(1):1
Background
Despite large-scale investments in mental health care in the community since the 1990 s, a trend towards reinstitutionalization has been visible since 2002. Since many mental health care providers regard this as an undesirable trend, the question arises: In the coming 5 years, what types of residence should be organized for people with mental health problems? The purpose of this article is to provide mental health care providers, public housing corporations, and local government with guidelines for planning organizational strategy concerning types of residence for people with mental health problems. 相似文献99.
A novel multitarget real-time PCR (RT-PCR) assay for the rapid identification of Bordetella pertussis, B. parapertussis, and B. holmesii was developed using multicopy insertion sequences (ISs) in combination with the pertussis toxin subunit S1 (ptxS1) singleplex assay. The RT-PCR targets for the multiplex assay include IS481, commonly found in B. pertussis and B. holmesii; IS1001 of B. parapertussis; and the IS1001-like sequence of B. holmesii. Overall, 402 Bordetella species and 66 non-Bordetella species isolates were tested in the multitarget assay. Cross-reactivity was found only with 5 B. bronchiseptica isolates, which were positive with IS1001 of B. parapertussis. The lower limit of detection (LLOD) of the multiplex assay was similar to the LLOD of each target in an individual assay format, which was approximately 1 genomic equivalent per reaction for all targets. A total of 197 human clinical specimens obtained during cough-illness outbreak investigations were used to evaluate the multitarget RT-PCR assay. The multiplex assay results from 87 clinical specimens were compared to the individual RT-PCR assay and culture results. The multitarget assay is useful as a diagnostic tool to confirm B. pertussis infections and to rapidly identify other Bordetella species. In conclusion, the use of this multitarget RT-PCR approach increases specificity, while it decreases the amount of time, reagents, and specimen necessary for RT-PCRs used for accurate diagnosis of pertussis-like illness. 相似文献
100.
AM Waryah A Rehman ZM Ahmed Z-H Bashir SY Khan AU Zafar S Riazuddin TB Friedman S Riazuddin 《Clinical genetics》2009,76(3):270-275
Autosomal recessive nonsyndromic hearing impairment (ARNSHI) segregating in three unrelated, large consanguineous Pakistani families (PKDF528, PKDF859 and PKDF326) is linked to markers on chromosome 12q14.2-q15. This novel locus is designated DFNB74 . Maximum two-point limit of detection (LOD) scores of 5.6, 5.7 and 2.6 were estimated for markers D 12 S 313, D 12 S 83 and D 12 S 75 at θ = 0 for recessive deafness segregating in these three families. Haplotype analyses identified a critical linkage interval of 5.35 cM (5.36 Mb) defined by D 12 S 329 at 74.58 cM and D 12 S 313 at 79.93 cM. DFNB74 is the second ARNSHI locus mapped to chromosome 12, but the physical intervals do not overlap with one another. A locus contributing to the early onset, rapidly progressing hearing loss of A/J mice ( ahl4 , age-related hearing loss 4) was reported to map to chromosome 10 in a region of conserved synteny to DFNB74 , suggesting that ahl4 and DFNB74 may be due to mutations of the same gene in these two species. 相似文献