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Biomedical subjects

S Miao

Publications and source records attributed to S Miao.

4 recordsLinked to original sources

Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.

The known mutant alleles of the human phenylalanine hydroxylase (PAN) gene were analyzed in 25 phenylketonuria (PKU) families from North China by using polymerase chain reaction and allele-specific oligonucleotide dot blot hybridization techniques. The results showed that the six mutations analyzed accounted for 62% of all PKU genes. The three most frequent mutations were R243Q, R413P and Y204C. Seven prenatal gene diagnoses were carried out in 6 PKU families and were confirmed after birth or by examination of aborted materials.

Base Sequence

Cloning and identification of a rabbit sperm membrane protein gene.

Antibodies raised against rabbit sperm membrane protein (rSMP-B) interacted with a rat testis cytosolic protein with an estimated molecular weight of 70 kD. The clone expressing rSMP-B was isolated by epitope selection from a rat testis lambda gt11 vector cDNA library. An Eco R1-cut 2.0 kb cDNA fragment encoding rSMP-B was identified. The cDNA fragment (RSD-1) was isolated, subcloned and restriction mapped. Dot hybridization analysis of mRNA prepared from human, rabbit and rat testes showed that the gene encoding rSMP-B is expressed in the testes of all three mammals.

Animals

Nucleic acid sequence of cDNA (RSD-1) encoding a rabbit sperm membrane protein and structural properties of the encoded protein.

The nucleotide sequence of a 2.0 kb cDNA encoding a rabbit sperm tail membrane protein was determined using the chain termination method. Analysis was performed using Sequenase and Klenow enzymes on the target sequence in an M13mp18/19 cloning system. The open reading frame consisted of 438 bp encoding 146 amino acids of the protein, with a calculated Mr of 15507. The hydrophobic amino acid content was 34.9%, and pI was in the vicinity of 5.8.

Amino Acid Sequence

Computer-assisted pathology encoding and reporting system (CAPER).

An on-line computer-assisted pathology encoding and reportying system (CAPER) has been developed by the Department of Pathology and Laboratory of Computer Science of the Massachusetts General Hospital for a department of surgical pathology that processes more than 25,000 specimens yearly. CAPER performs clerical functions, including the accessioning of specimens, monitoring their state of completion, production of log books, billing, statistics, and transfer of diagnoses to other hospital departments. It also permits instantaneous display of all diagnoses rendered within two years, printout within 24 hours of all older diagnoses for any patient, and retrieval of all specimens with any given diagnosis, further defined by any data item (e.g., age) stored in the computer file.

Computers