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A Rando

Publications and source records attributed to A Rando.

At least 19 recordsLinked to original sources
PubMed2001

An allele associated with a non-detectable amount of alpha s2 casein in goat milk.

The goat CSN1S2 locus is characterized by the presence of three alleles, A, B and C, all associated with about 2.5 g/l of protein per allele. The SDS-PAGE analysis of 441 individual milk samples obtained from goats belonging to a population reared in Southern Italy showed that the milk produced by three goats did not apparently contain alpha s2-casein, whereas milk produced by 37 goats showed a less intense electrophoretic band of this casein fraction (about 50%). These results can be explained by hypothesizing the presence of another allele at this locus, CSN1S2o, associated with a 'null' content of alpha s2-casein. Southern blot, PCR and PCR-RFLP analyses of the DNA region containing the CSN1S2 gene of individuals producing milk with and without alpha s2-casein did not show differences between the two groups. As a consequence, goats producing milk without alpha s2-casein carry an apparently intact gene. The first results obtained by sequencing part of the CSN1S2o allele revealed a G-->A transition at nucleotide 80 of the 11th exon which creates a stop codon and could be responsible for the absence of the alpha s2-casein in goat milk. This mutation eliminates a NcoI restriction site. A test based on this polymorphism has been established in order to identify carriers of the CSN1S2o allele.

Alleles↗
PubMed2001

Characterization of two new alleles at the goat CSN1S2 locus.

Two novel alleles at the goat CSN1S2 locus have been identified: CSN1S2(F) and CSN1S2(D). Sequence analyses revealed that the CSN1S2(F) allele is characterized by a G --> A transition at the 13th nucleotide in exon 3 changing the seventh amino acid of the mature protein from Val to Ile. The CSN1S2(D) allele, apparently associated with a decreased synthesis of alpha s2-casein, is characterized by a 106-bp deletion, involving the last 11 bp of the exon 11 and the first 95 bp of the following intron. Methods (PCR-RFLP and PCR) for identification of carriers of these alleles have been developed.

Alleles↗
PubMed2000

Potential acuity meter results in cataract patients.

PURPOSE: To determine the ability of the potential acuity meter (PAM) to predict potential visual acuity through lenticular opacities in a group of cataract patients without significant other ocular pathology. METHODS: This prospective study undertook PAM measurements on each eye of 84 subjects during preoperative hospital visits to either A Scan or Primary Care clinics. PAM results were compared to best corrected visual acuity findings obtained at least 6 weeks post-cataract extraction. RESULTS: Comparison of PAM result to visual outcome showed poor correlation (rho = 0.41, P = 0.0005). Using predictive estimates, 49% of subjects' PAM results underestimated visual outcome as determined by a difference of greater than 2 Snellen acuity lines in these results. Factors such as preoperative vision level, cataract type and pupil dilation did not significantly influence the predictive power of the PAM. Preoperative pinhole results were also correlated with visual outcome (rho = 0.42, P = 0.0006). Vison in the fellow eye of subjects with 6/9 or better was correlated to the PAM result indicating a moderate to good predictive power in 'normal' eyes. CONCLUSIONS: PAM results were considered to be poor for a clinical test. The results of this study indicate that this instrument has only a limited usefulness as part of the standard preoperatve examination in patients undergoing cataract extraction.

Adult↗
PubMed1998

Characterization of the CSN1AG allele of the bovine alpha s1-casein locus by the insertion of a relict of a long interspersed element.

The bovine CSN1AG allele is associated with a lower proportion of alpha s1-casein in milk and is characterized by an insertion in the last noncoding exon (19th). According to DNA sequence analysis, the location, length, and origin of the insertion characterizing the bovine CSN1AG allele have been identified. This insertion interrupts the 19th exon between nucleotides 58 and 59, is 371 bp long, and has a high level of homology with relicts of long interspersed elements of retropositional origin. Northern blot analysis shows that the inserted element is transcribed and that the number of transcripts of the CSN1AG allele is less than one-half of the number of transcripts of the CSN1AB allele. The lower amount of alpha s1-casein in milk obtained from cows carrying the CSN1AG allele can be explained by a reduced mRNA stability. Furthermore, a method has been developed using polymerase chain reaction for identification of the carriers of the CSN1AG allele.

Alleles↗
PubMed1995

Sheep alpha-globin gene sequences: implications for their concerted evolution and for the down-regulation of the 3' genes.

In sheep as in man and most other mammals, there are two alpha-globin genes (I alpha and II alpha), which are expressed at different levels, the upstream gene being the most efficient. In alpha-globin gene triplication and quadruplication, this trend is confirmed, i.e., the alpha-chain output of the downstream genes progressively decreases. In this study, we have determined the complete sequence of the cDNAs and of both the introns in a triple-alpha haplotype in which each gene could be recognized for the presence of distinct alleles. The sequence analysis reveals that the bodies of the three alpha-globin genes are essentially identical (99.9% homology) and moreover indicates that the down-regulation of additional alpha-globin genes in sheep is not the effect of sequence variation from the Cap to the Poly(A) addition sites. This striking similarity among alpha-genes is higher than that seen in other mammals and is probably sustained by particularly efficient mechanisms of gene conversion and cross-over fixation.

Animals↗