Copy-number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional chromosomal abnormalities requires powerful tools. A competitive fluorescent multiplex STR polymorphism assay (CFMSA) was built for detecting these aberrations. With the introduction of an internal reference and distinguishable STR polymorphism markers, this competitive fluorescent multiplex STR polymorphism assay provides complementary information about polymorphism and gene dosage in one tube simultaneously, thereby enhancing the assay sensitivity. It was first tested in 110 normal controls, and was proven to have highly polymorphic and reliable gene dosage information. Then, 476 subjects with congenital heart defect were screened according to the testing strategy of the American Heart Association, and 17 deletions and 1 duplication of 22q11.2 were correctly identified. It is expected that this assay will serve as a cost-effective alternative to existing assays for routine, large-scale screening in all at-risk individuals with either deletion or duplication in 22q11.2.
"Genomic DNA was extracted from peripheral blood leukocytes using standard procedures (Qiagen). DNA was then subjected to 22q11 microdeletion analysis . Only patients without such cytogenetic aberrations were included for further research, which comprised 145 TOF, 37 DORV, and 18 TGA "
[Show abstract][Hide abstract] ABSTRACT: Conotruncal heart defect (CTD) is a complex form of congenital heart disease and usually has a poor prognosis. ZFPM2/FOG2 encodes a transcription cofactor that interacts with GATA4 to regulate cardiac development. This regulation has been established in knockout mouse models that display a range of heart malformations, especially CTD. Although previous studies have identified several missense variants in ZFPM2/FOG2 that may cause CTD, it remains unclear whether they are involved in CTD pathogenesis because the study populations were limited and the functional status was unknown. In this report, we screened a larger CTD population, which comprised 145 tetralogy of Fallot (TOF), 37 double-outlet ventricle outflow (DORV), and 18 transposition of the great artery (TGA), to investigate exon mutations as well as copy number variations in ZFPM2/FOG2. Four variants (p.V339I in one DORV, p.A426T in one DORV, p.M703L in three TOF, p.T843M in one TOF) were found in six patients, of which two are reported here for the first time. No copy number variations of the gene were detected. GST pull-down assays demonstrated that all potentially deleterious variants, including those previously reported, did not impair the interaction with GATA4, except for variant p.M544I and p.K737E, which subtly impaired the binding. Thus, these missense variants may be involved in other mechanisms underlying CTD or may be unrelated to CTD occurrence.
PLoS ONE 07/2014; 9(7):e102379. DOI:10.1371/journal.pone.0102379 · 3.23 Impact Factor
"To confirm the parental origin of the deleted 1q25.2q31.3 fragment, STRP analysis was performed following a previously described protocol . Three STRP markers with high heterozygosity (D1S413, D1S218 and D1S238) in the 1q25q32 region were applied. "
[Show abstract][Hide abstract] ABSTRACT: The reports of 1q25-32 deletion cases are rare. We reported here an 11-year-old Chinese Han female with an interstitial 1q25 deletion displaying mental retardation, clinodactyly of the 5th finger and minor facial anomalies. Notably, the patient did not present growth retardation which is quite common in patients with 1q25-32 deletion encompassing LHX4. The heterozygous deletion in this patient was characterized as 46,XX,del(1)(q25.2-q31.3) with a length of 20.5 Mb according to SNP-array test results. STRP (Short Tandem Repeat Polymorphism) analysis of the family trio indicated the genomic abnormality was de novo with paternal origin. After a genotype-phenotype analysis, we proposed here the loss of a 3.1Mb critical region including 24 genes within 1q25.2 (chr1:174.5-177.6Mb, build 36) may account for the mental retardation in patients with 1q25-32 deletion.
[Show abstract][Hide abstract] ABSTRACT: When the number of bits per symbol is odd, the peak and average power of transmission can be reduced by using cross quadrature amplitude modulations (QAMs) instead of rectangular QAMs. Since perfect Gray coding is not possible for cross QAMs, using Smith-style Gray coding, we derive in this paper the exact bit error rate (BER) for the cross 32-QAM constellation over additive white Gaussian noise (AWGN) and Rayleigh fading channels.
Control, Communications and Signal Processing, 2004. First International Symposium on; 02/2004
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