A new high-frequency allele of the BM2113 locus in the Yunnan mithun population.

The BM2113 locus was amplified in Yunnan mithun (Bos frontalis) from the southwest mountains of China. It showed a high degree of polymorphism with a total of 12 alleles. The 121-bp polymorphic allele of the BM2113 locus that accounted for 37.1% of homozygotes was the predominant allele with a frequency of 58.57%, identified as mithun-specific for Bos species in Yunnan mithun. The polymorphism information content value was high with a mean of 0.6170, the expected and observed heterozygosity was moderate with values of 0.6427 and 0.6000, respectively, and the BM2113 locus was under Hardy-Weinberg equilibrium (P = 0.2897) in the Yunnan mithun population. This study elucidated the genetic diversity, multi-origin, specific alleles, and characterization of mithun.

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases. Survival motor neuron1 (SMN1) is the SMA disease-determining gene. We examined the molecular basis of SMA in 113 Chinese SMA patients. Homozygous exon 7 and 8 deletions in SMN1 were detected by PCR-RFLP. Heterozygous deletion of SMN1 was analyzed based on variation of the sequencing peak height of the two different base pairs of exons 7 and 8 between SMN1 and SMN2. Subtle mutation was detected by genomic sequencing in the patients with heterozygous deletion of SMN1. In our study, the rate of deletion of SMN1 exon 7 and/or 8 was 91.2%; the rate of subtle mutations was 1.8%. We detected the same subtle mutation (p.Leu228X) of SMN exon 5 in two patients (one type I, one type III). The p.Ser8LysfsX23 and p.Leu228X mutations accounted for 13 of the 23 families with subtle mutations reported in the SMN1 gene of Chinese SMA. This is the first report where the phenotype of SMA-type III is associated with p.Leu228X. We found two subtle mutation hotspots (p.Ser8LysfsX23 and p.Leu228X) of SMN1 exons 1 and 5 in Chinese SMA patients. These two mutations have not been reported from America or Europe. It is proposed that the distribution of subtle mutations of SMN1 of SMA is associated with ethnicity or geographic origin.

Karyotype analysis of mithun (Bos frontalis) and mithun bull x Brahman cow hybrids.

We examined the cytogenetics of mithun (Bos frontalis), a domesticated version of the Asian gaur, and hybrids (F(1) generation) produced by artificial insemination of Brahman cows (Bos indicus) with mithun semen. Reproductive potential was also examined in the F(1) generation and a backcrossed heifer for utilization of heterosis. Metaphase chromosome spreads were examined by conventional staining and fluorescence in situ hybridization hybridized with the entire chromosome 1 of mithun as a specific probe. Chromosome 1 of mithun was found to be equivalent to Bos taurus chromosomes 2 and 28. The karyotype of the female mithun (N = 4) comprised 58 chromosomes, including 54 acrocentric and four large submetacentric chromosomes, without the four acrocentric chromosomes found in the domesticated species B. indicus. However, one of the four female mithuns with a normal mithun phenotype had an abnormal karyotype (2n = 59), indicating introgression from B. taurus or B. indicus. The F(1) karyotypes (N = 6, 3♂3♀) of the mithun bull × Brahman cow cross had 2n = 59, intermediate between their parents; they were consistent heterozygous carriers with a centric fusion involving rob(2;28), as expected. Two pronounced red signals were seen in the mithun karyotypes, three red signals in the mithun × Brahman hybrids, and four red signals in the Brahman cattle, in good agreement with centric fusion of bovine rob(2;28). The female backcross hybrid (N = 1) with 2n = 59 had a similar chromosome configuration to the F(1) karyotypes and had rob(2;28). Such female backcross hybrids normally reproduce; however, the F(1) bulls (N = 3) had not yet generated normal sperm at 24 months.

Comparison of global and regional left ventricular function assessed by gated-SPECT and 2-D echocardiography.

Left ventricular (LV) function and volumes have major diagnostic and prognostic importance in patients with heart diseases. Those measurements are most commonly obtained with echocardiographic techniques. Recently, with the use of electrocardiographic gating during the acquisition of myocardial perfusion scintigraphy, it has become possible to simultaneously assess LV perfusion, function and volumes. Both technetium-99m labeled agents and thallium-201, the most commonly used tracers for perfusion scintigraphy, can be used for gated perfusion purposes. Many authors compared gated perfusion images to echocardiography, in regard to LV global and segmental wall motion as well as volumes. We performed gated single photon emission computed tomography (SPECT) and echocardiography in 109 consecutive patients (53 male, 56 female, mean age 63 +/- 14 years) within 15 days of each other. Gated tomographic data, including LV volumes, LV ejection fraction and segmental wall motion, were processed using an automatic algorithm whereas echocardiography used standard techniques. To obtain interobserver and intraobserver variability of regional wall motion, we randomly re-analyzed 34 of the 109 gated SPECT studies. The correlations between gated tomography and echocardiography with respect to end-diastolic volume, end-systolic volume and left ventricular ejection fraction were good to excellent (all p < 0.001, r values > or = 0.68) regardless of the use of post-stress or rest/redistribution images, thallium-201 or technetium-99m tracers. The agreement between both techniques, regarding segmental wall motion analysis were also good. Intraobserver and interobserver variability for regional wall motion were good to excellent, with an agreement of 90% and 88%, respectively. Other authors also had similar results in different studies with different populations, tracers, imaging acquisition and processing protocols. Thus, quantitative gated SPECT, using a variety of protocols and with either Tl-201 or Tc-99m tracers, has a good correlation with echocardiography for the measurements of absolute LV volumes and LV global and regional function. This technique is highly reproducible and can be used clinically for those measurements, with the additional advantage that the ventricular performance parameters are obtained from the perfusion images. Furthermore, contrary to echocardiographic techniques used to assess LV volumes and LV function, which are quite labor intensive and more observer-dependent, the gated SPECT technique is nearly totally automatic, and highly reproducible.