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41.
Brunella Franco Li-Wen Lai David Patterson David H. Ledbetter Barbara J. Trask Ger van den Engh Susan Iannaccone Shannon Frances Pragna I. Patel James R. Lupski 《Human genetics》1991,87(3):269-277
Summary We report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial deletion of 1q23–1q25. Molecular analysis of the deletion was performed using DNA markers that map to 1q. Five DNA markers, MLAJ-1 (D1S61), CRI-L1054 (D1S42), HBI40 (D1S66), OS-6 (D1S75), and BH516 (D1S110), were demonstrated to be deleted. Informative polymorphisms demonstrated this to be a de novo deletion of the maternally derived chromosome. Deletion status was determined using restriction fragment length polymorphism (RFLP) analysis supplemented with densitometry in the experiments where RFLP analysis was not fully informative. Deletions were confirmed by Southern analysis using genomic DNA from a somatic cell hybrid retaining the del(1)(q23–q25) chromosome that was constructed from patient S.T. Flow karyotyping confirmed the deletion and estimated that the deletion encompassed 11,000–16,000 kb. The clinical and cytogenetic characteristics of S.T. are compared with those of ten previously described patients with monosomy 1q21–1q25. 相似文献
42.
The malmö polymorphism of coagulation factor IX, an immunologic polymorphism due to dimorphism of residue 148 that is in linkage disequilibrium with two other F.IX polymorphisms 下载免费PDF全文
John B. Graham Dennis B. Lubahn Susan T. Lord Julie Kirshtein Inga Marie Nilsson Anders Wallmark Rolf Ljung L. D. Frazier Jerry L. Ware Shu Wah Lin Darrell W. Stafford John Bosco 《American journal of human genetics》1988,42(4):573-580
A mouse monoclonal antibody (MAB 9.9) to coagulation factor IX (F.IX) detects a polymorphism in the plasma of normal people. Its epitope has been narrowed down to <6 amino acids in the activation peptide of the X-linked F.IX protein. The activation peptide contains a dimorphism—Thr:Ala—at position 148 of the protein. Using synthetic oligonucleotides, we have demonstrated that (1) the F.IX which reacts with 9.9 has Thr at position 148 and (2) that which does not has Ala. Positive reactors (148thr) are designated Malmö A, and negative reactors (148ala) are designated Malmö B. The plasma levels of AA women are indistinguishable from those of A men, and both B men and BB women are null against MAB 9.9. The plasma level of Malmö A in AB women is approximately half that of AA women, and “lyonization” is clearly operating in the heterozygotes. The dimorphism is in strong linkage disequilibrium with two other intragenic RFLPs, TaqI and XmnI. Furthermore, intragenic crossing-over—including double crossing-over—appears to have occurred between the three sites. Seven of the eight possible haplotypes have been identified, five in men and two others in women. The immunoassay that identifies ~50% of the AB women in the pool of Malmö A females with 95% confidence identifies men unambiguously as A or B. The assay would be very useful for population-genetic studies of the Malmö epitope if the studies were limited to men. 相似文献
43.
44.
Examination of Genetic Relatedness of Marine Synechococcus spp. by Using Restriction Fragment Length Polymorphisms 总被引:3,自引:3,他引:0 下载免费PDF全文
The relatedness of several marine Synechococcus spp. was estimated by DNA hybridization. Strains isolated from various geographical locations and representing a diversity of DNA base compositions and phycobiliprotein profiles were compared by restriction fragment length polymorphisms for a number of genes. DNAs from two marine red algae and a cryptomonad alga (which exhibit a phycobiliprotein composition similar to that of the marine Synechococcus spp.) and Synechococcus strain PCC6301 (Anacystis nidulans) were also included in the comparison. Strains WH8008, WH8018, and WH7805 were shown to be very similar to one another, as were strains WH7802 and WH7803. Strains WH8110 and WH5701 were clearly unrelated to any of the other strains, and no marine Synechococcus isolate showed any similarity to the freshwater Synechococcus strain PCC6301 or the eucaryotic algae. The method is relatively straightforward and sensitive and uses a variety of basic molecular biology techniques. Its utility in ascertaining the genetic relatedness and diversity of marine Synechococcus spp. and possible extension to field studies are discussed. 相似文献
45.
Rhizobium trifolii 0403 Is Capable of Growth in the Absence of Combined Nitrogen 总被引:1,自引:1,他引:0 下载免费PDF全文
Rhizobium trifolii 0403 was treated with 16.6 mM succinate and other nutrients and thereby induced to grow in nitrogen-free medium. The organism grew microaerophilically on either semisolid or liquid medium, fixing atmospheric nitrogen to meet metabolic needs. Nitrogen fixation was measured via 15N incorporation (18% 15N enrichment in 1.5 doublings) and acetylene reduction. Nitrogen-fixing cells had a Km for acetylene of 0.07 atm (ca. 7.09 kPa), required about 3% oxygen for optimum growth in liquid medium, and showed a maximal specific activity of 5 nmol of acetylene reduced per min per mg of protein at 0.04 atm (ca. 4.05 kPa) of acetylene. The doubling time on N-free liquid medium ranged from 1 to 5 days, depending on oxygen tension, with an optimum temperature for growth of about 30°C. Nodulation of white clover by the cultures showing in vitro nitrogenase activity indicates that at least part of the population maintained identity with wild-type strain 0403. 相似文献
46.
This communication reports the DNA level identification of class I and class II sequences associated with 20 RT1 haplotypes which have been assigned previously to eight RT1 groups. Sixteen to 22 bands in genomic blots hybridized with the mouse pH-2III class I cDNA probe. Only the three RT1
khaplotypes associated with identical class I restriction fragment patterns. Differences in restriction bands between putatively identical RT1 haplotypes were either less than or equal to 6%, or greater than 50%, suggesting a relatively high level of recombination between serologically identified RT1.A genes and the majority of class I sequences. Restriction fragment patterns associated with three RT1
uhaplotypes differed by less than 6%. However, intra-RT1
a,intra-RT1
b,and intra-RT1
lrestriction fragment differences were between 50 and 64%. In specific cases, different RT1 haplotypes associated with identical class I restriction patterns, e.g., RT1
m(MNR) and RT1
d(MR); higher resolution confirmed the difference (two bands) between RT1
mand RT1
d.Results of hybridization with the human DC1
probe confirmed that the AVN RT1
aand NSD RT1
bhaplotypes were generated by recombinations within the vicinity of the RT1.B : RT1.D regions. These results demonstrate that a previous classification of RT1 haplotypes was incomplete and did not include the majority of class I and class II sequences which distinguish RT1 haplotypes. 相似文献
47.
Philip Skehan Susan J. Friedman 《In vitro cellular & developmental biology. Plant》1985,21(5):288-290
Summary A rapid method has been developed for measuring the cellular protein content of mono- and multilayered anchorage cultures.
Fixed or air dried cultures are stained for 30 min with 0.2% Naphthol Yellow S (NYS) dissolved in 1% acetic acid. Unbound
dye is removed by a series of four 2.5 min washes in 1% acetic acid, and protein-bound dye extracted with 10 mM unbuffered Tris base for spectrophotometric optical density determination at 433 nm. The NYS method exhibited a least-squares
correlation coefficient of 0.99997 with the Oyama-Eagle Lowry method. 相似文献
48.
Dr. Edward B. Blanchard James Jaccard Frank Andrasik Patricia Guarnieri Susan E. Jurish 《Applied psychophysiology and biofeedback》1985,10(1):63-68
Comparisons are made of self-reported medical costs from a sample of headache patients who underwent various combinations of relaxation training and biofeedback training. The average costs for the 2 years prior to self-regulatory treatment were $955±480 (3 SEM) for 45 patients; for the 2 years after completing treatment the average costs were $52±28 (3 SEM) for patients. Within the limitations of the study, medical costs do seem to have been markedly reduced.This research was supported by a grant from NINCDS, NS-15235. 相似文献
49.
M inney , S.F., P arkes , R.J. & B ull , A.T. 1985. A note on the characterization of an estuarine microbial community enriched with the herbicide Fenuron. Journal of Applied Bacteriology 59 , 17—22.
A stable, five-membered estuarine microbial community was enriched in the presence of 1,1 dimethyl-3-phenylurea (Fenuron), phenylurea and aniline. At a dilution rate of 0μD01/h in the chemostat, partial aniline utilization occurred and the rate increased with dilution rate. At the higher dilution rates the phenylurea component was also utilized. At a dilution rate of mD015/h in a fluidized bed system, complete removal of both aniline and phenylurea occurred. There was no evidence of Fenuron degradation under any of the conditions examined. The importance of the use of heterogeneous culture conditions in the laboratory is discussed. 相似文献
A stable, five-membered estuarine microbial community was enriched in the presence of 1,1 dimethyl-3-phenylurea (Fenuron), phenylurea and aniline. At a dilution rate of 0μD01/h in the chemostat, partial aniline utilization occurred and the rate increased with dilution rate. At the higher dilution rates the phenylurea component was also utilized. At a dilution rate of mD015/h in a fluidized bed system, complete removal of both aniline and phenylurea occurred. There was no evidence of Fenuron degradation under any of the conditions examined. The importance of the use of heterogeneous culture conditions in the laboratory is discussed. 相似文献
50.
We estimated age at attainment of sexual maturity and examined reproductive seasonality for male spotted dolphins, Stenella attenuata , from the eastern tropical Pacific Ocean. Maturity was determined by histological examination of testes. Average age at sexual maturation was 14.7 yr (the mean of two readers' age estimates). Testis and epididymis weight and seminiferous tubule diameters were reliable indicators of maturity, whereas age, length and color phase were less reliable. Seasonality was determined by changes in testis and epididymis weight, relative quantity of spermatids and spermatozoa, and lumen diameter, as well as an index of testis development (weight of the right testis and epididymis divided by length of the right testis). Testis and epididymis weights and index values peaked in July and August, midway between two predicted mating seasons for the northern offshore stock, but spermatozoa levels were elevated during the predicted breeding seasons. 相似文献