Usher syndrome type IC is a rare, autosomal recessive sensorineural disorder caused by mutations in the USH1C gene, which encodes a PDZ-domain protein named harmonin. The Acadian-specific 216G-->A mutation in exon 3 and a variant 9-repeat VNTR allele (designated VNTR(t,t)) in intron 5 are in complete linkage disequilibrium. (The usual form of the allele is referred to as VNTR(t).) To gain insig...

PURPOSE MHC class I chain related gene A (MICA), a polymorphic and stress-inducible cell surface molecule, is located centromeric to human leukocyte antigen locus B (HLA-B) in the human leukocyte antigen (HLA) region on chromosome 6. MICA is thought to be involved in the innate immune response. An alanine repeat polymorphism is present in the MICA transmembrane region, for which several disease...

In this report, we describe the sequence allelotyping of the Ha-ras variable number tandem repeat (VNTR) region using a minisatellite variant repeat (MVR)-PCR approach. This method permits the rapid identification of internal sequence variations among the VNTR alleles, exploiting the presence of two polymorphic sites within the 28-bp repeat subunits that give rise to four distinct repeat types....

OBJECTIVE To evaluate the reasons for repeat intervention in patients treated with balloon expandable stents for pulmonary artery stenoses, with particular analysis of the time intervals between interventions. DESIGN A retrospective observational study. SETTING A single paediatric cardiology centre. PATIENTS 38 patients, mean age 6.9 years, range 6 days to 34 years (one adult patient); me...

RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD) a skeletal disorder characterised by gross dysgenesis of bones particularly those derived from intramembranous bone formation. A notable feature of the RUNX2 protein is the polyglutamine and polyalanine (23Q/17A) domain coded b...

objectives: myotonic dystrophy type i (dm1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. dm1 is associated with the expansion and instability of ctg repeat in the 3' untranslated region of the myotonic dystrophy protein kinase (dmpk) gene located on chromosome 19q13.3. the aim of this study was ...

background: the variable numbers of tandem-repeat (vntr) alleles at the phenylalanine hydroxylase (pah) gene have been used in carrier detection and prenatal diagnosis in phenylketonuria families. this study was carried out to analyze vntr alleles at the pah gene in iranian azeri turkish population. methods: in this study, 200 alleles from general population were studied by pcr. results: the fr...

objective: classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. molecular cytogenetic techniques have also recently been developed and used for this purpose. quantitative florescence pcr using short tandem repeat (str) markers has more potential for high throughput diagnosis. marker heterozygosity in short tandem repeats (str) is ...

paris polyphylla smith var. yunnanensis (liliaceae) is an important traditional medicinal plant of the yunnan province in china. however, the genomic information regarding this plant is limited. to further understand its molecular background, we conducted illumina hiseq 2000 second-generation sequencing of this plant species. approximately 30,198,679 reads with an average length of 202 bases we...