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Biomedical subjects

Y Nakagome

Publications and source records attributed to Y Nakagome.

At least 37 records · Page 2Linked to original sources
PubMed1994

The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis.

We studied the methylation status of the CpG island of the FMR-1 (fragile X syndrome) gene to recognize the possibility of its prenatal diagnosis with early pregnant subjects. Southern hybridization using EcoRI/BssHII restriction enzymes double digestion was performed in the brain and chorionic villi of 8th week embryos, and the placenta and cord blood of newborns. No methylation of the FMR-1 gene occurred in both of the tissues examined in males, while 50% of the cells in females were methylated in both the brain and the cord blood, indicating that methylation occurs with inactivation of the X-chromosome in accordance with the literature. However, there was no methylation in either the chorionic villi or placenta in female as well as in males. Some extra-embryonic tissues such as the chorionic villi and the placenta escape X-chromosome FMR-1 gene inactivation and it can be the exception in the lyonization. To assess the methylation status in prenatal diagnosis, precautions are needed and they are not suitable for prenatal diagnosis.

Blotting, Southern↗
PubMed1994

Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.

A patient with an apparently normal 46, XY karyotype, suffering from pure gonadal dysgenesis and of short stature was investigated. The patient, who was growth retarded, was a 30-year-old married Japanese woman with a history of primary amenorrhea and infertility with a weight of 42 kg and a height of 146 cm. She has a phenotypically and karyotypically normal dizygotic twin brother with normal development. Southern-blot and polymerase chain-reaction analyses revealed no apparent deletions in the patient's Y chromosome, including the sex-determining region Y (SRY). The DNA sequencing of the SRY gene showed a 100% nucleotide sequence identity with the reported cloned sequence. Sex reversal in the present case may be due to mutation at a locus other than SRY in the sex determining pathway, a gene potentially involved in the determination of human constitution.

Adult↗
PubMed1994

Myoclonic epilepsy and a maternally derived deletion of 15pter-->q13.

Deletion of a 15pter-->q13 segment of maternal origin was observed in a mentally retarded infant. In addition to the symptoms common to deletions of proximal 15q, the phenotype included myoclonic epilepsy of early infantile onset. The deletion was caused by a 3:1 disjunction in the mother, who was a carrier of t(15;22)(13q;p11) translocation.

Chromosome Deletion↗
PubMed1993

Restriction fragment length polymorphisms of the CYP11B1 gene in the Japanese population.

Restriction fragment length polymorphisms (RFLPs) of the CYP11B1 gene were studied in Japanese using cDNA clone P450c11 as a probe. Genomic DNAs from 60 unrelated Japanese individuals were digested with 8 different restriction enzymes and analyzed by Southern blot hybridization. Two RFLPs were detected in MspI digests of the DNA. One (A) was characterized by polymorphic bands at 3.4 and 2.5 kilobase-pairs (kb) and the other (B) by polymorphic bands at 1.7 and 1.2 kb. The third RFLP was observed in PvuII-digested samples and was polymorphic at 5.8 and 4.0 kb bands. Two of the three RFLPs found, RFLP (A) and (C), have not been described in the only previous report which was based on Caucasian samples. We also examined the RFLPs of a 3 generation family of 11 beta-hydroxylase deficiency caused by an abnormality of the CYP11B1 gene. All the family members were homozygous in all three RFLPs and was thus not informative.

Adrenal Hyperplasia, Congenital↗
PubMed1993

Sex identification by polymerase chain reaction using a Y-autosome homologous primer set.

We have developed a one-step polymerase chain reaction (PCR) technique which detects a sequence on the human Y chromosome and an autosomal sequence in one reaction. The method is very reliable for the sex determination, as the detection of the autosome-specific signal ensures the presence of DNA in the specimen even in the absence of the Y-specific signal.

Base Sequence↗
PubMed1993

A minute deletion of the Y chromosome in men with azoospermia.

We analyzed deoxyribonucleic acid from 50 Japanese men with azoospermia whose Y chromosomes were cytogenetically normal. A total of 26 loci was examined in each patient. Of these patients 6 had small interstitial deletions, each of which was located within the distal part of Yq11. Five of these 6 patients lacked the same 2 loci, DYS7C and DYS1, while 1 patient had a larger deletion including DYS7C but not DYS1. More than 10% of all men with azoospermia of unknown origin may have minute interstitial deletions of the Y chromosome surrounding the DYS7C locus. The proximal part of this zone presumably encompasses the gene deletion that causes azoospermia.

Adult↗
PubMed1993

Detection of the testis determining factor in an XX man.

An XX male patient was examined for the presence of 25 loci on the Y chromosome. Only 2 loci, the proximal border of the pseudoautosomal region Y and the sex determining region Y, were detected in this patient. The other 23 loci, including the zinc finger protein Y, were absent. We presume that a crossing over between the X and Y chromosomes occurred at the region proximal to the sex determining region Y but distal to the zinc finger protein Y during meiosis of the father.

Adolescent↗
PubMed1993

11q trisomy detected by fluorescence in situ hybridization.

A patient with psychomotor developmental delay, multiple minor anomalies, congenital heart disease and left inguinal hernia is reported. His karyotype was 45,X/46,X,+mar (3:37 cells), and the marker chromosome was identified as t(Y;11)(q12;q14?) using fluorescence in situ hybridization and fluorescent chromosome painting. He was diagnosed as mosaic for de novo 11q trisomy.

Abnormalities, Multiple↗
PubMed1993

[Human Y chromosome in reproduction and development].

The present status of human Y chromosome study is reviewed. A total of 13 genes, including two pseudogenes, have been mapped on the Y chromosome. They included colony stimulating factor receptor (CSF2R), SRY (TDF), ZFY, RPS4Y (ribosome protein 4S), ADMLY (Kallman syndrome), AMGL (amelogenin, which we cloned ourselves) and so on. In addition, the presence of two XY homologous genes is proposed. One increases performance IQ and the other reduces water-content of an embryo. We examined 54 azoospermic patients with an apparently normal Y chromosome. Each patient was analyzed for the presence or absence of 26 loci on the Y chromosome. Six showed a very small "micro" deletion. A common segment which is absent in every 6 patient has been identified. Cloning of azoospermia-related gene is being attempted using YAC clones.

Animals↗
PubMed1992

Localization of 24 cosmid clones on the human Y chromosome.

Twenty-four novel cosmid clones were cloned and mapped on the human Y chromosome using a panel consisting of DNA from seven individuals each having a different segment of the Y chromosome. Eight were assigned to the short arm, 15 to the long arm and 1 to the both short and long arms.

Animals↗
PubMed1992

DNA analysis of two patients with a non-fluorescent Y chromosome.

Results of DNA study on two patients of gonadal dysgenesis with a 45,X/46,X,Ynf (non-fluorescent Y chromosome) karyotype are described. In one patient who developed gonadoblastoma, all 12 loci on the non-fluorescent part of Yq were detected. Another patient did not have gonadoblastoma at 20 years, and only the proximal 6 loci out of 12 were detected.

Adult↗
PubMed1992

PCR detection of structurally abnormal Y chromosomes.

Three probes each detecting a locus on the proximal long arm of the Y chromosome were partially sequenced. Thus, 3 sets of novel primers were developed which enable PCR detection of these 3 loci. Five previously reported primer sets, 3 on the short arm and each one on the centromere and the distal long arm, were mapped along with the novel three using a mapping panel consisted of 8 patients each with different structural abnormality of the Y chromosome. Now, PCR detection of these 8 loci covering an entire length of the Y chromosome has become possible enabling rapid screening of patients with Y chromosome aberrations.

Base Sequence↗
PubMed1992

Sex determination of forensic samples by dual PCR amplification of an X-Y homologous gene.

Sex determination by polymerase chain reaction (PCR) analysis of the X-Y homologous amelogenin gene is highly reliable since the detection of an X-specific amplified fragment validates the procedure. Previously, we reported that 250 ng of template DNA are required for sex determination by this method. We report here a refinement of the technique to include dual PCR. Dual PCR using two sets of primers results in the detection of X- and Y-specific amplified fragments from as little as 0.005 ng of template DNA. This is a powerful technique for the analysis of trace forensic samples and its application is discussed.

Amelogenin↗
PubMed1992

Deoxyribonucleic acid study on 2 XX male patients.

Two XX male patients were examined for the presence of 25 Y-specific loci using Southern blot analysis and polymerase chain reaction techniques. They were phenotypically normal male patients, although 1 had bilateral undescended testes and 1 had hypoplastic testes. The former patient had 10 of 11 loci on the short arm, while the latter lacked any of the 25 Y-specific loci. These findings may suggest the existence of a non-Y gene that is controlled by the testis-determining factor on the short arm of the Y chromosome and has a role in the testis formation in man.

Adult↗
PubMed1992

A Y-associated allele may be characteristic of certain ethnic groups in Asia.

The probe 47z detects DNA polymorphisms on both the X and Y chromosomes. Blood samples were collected from Korean, Chinese, Jewish, Caucasian and Negro populations and polymorphisms of both loci were compared with findings previously reported in Japanese. Both Y1 and Y2 alleles were detected in Japanese and Koreans. However, only the Y1 allele was detected in each of the other populations. Although, both X1 and X2 alleles were detected in all examined populations, the frequency of the X2 allele was very low among Negroes.

Alleles↗
PubMed1992

Cytogenetical and molecularbiological studies on a bovine XY female.

A bovine XY female in Holstein-Friesian heifer, which appeared as female with uterus and ovaries but did not show the estrus until 23 months old after the birth, was cytogenetically and molecularbiologically examined. As results of chromosome analysis, leucocyte and fibroblasts from skin, spleen and kidney examined had only metaphase plates with 60, XY. From these results and the clinical characteristics, this case was clearly diagnosed as a pure XY female. It was ascertained that the two genes, ZFY and AMG gene which located on the short arm of the Y chromosome (Yp) were detected in normal bulls and a XY female, but were not detected in normal cow, mother cow and half-sib heifer by Southern blotting.

Amelogenin↗