|Budget Amount *help
¥2,200,000 (Direct Cost : ¥2,200,000)
Fiscal Year 1995 : ¥1,000,000 (Direct Cost : ¥1,000,000)
Fiscal Year 1994 : ¥1,200,000 (Direct Cost : ¥1,200,000)
1.A total of 7 low birth weight infants (small-for-dates : SFD) were evaluated for chromosomal abnormalities and uniparental disomy. Blood samples from 7 babies and their parents were obtained after informed consent. Chromosome analysis and polymerase chain reaction (PCR) using oligonucleotides were performed. PCR proceeded with oligonucleotides showing repeat sequences from each chromosome as primers and genomic DNA as a template. Neither chromosomal abnormalities nor uniparental disomy was demonstrated in each baby.
2.A total of 12 spontaneous abortuses were also evaluated for the presence of chromosomal abnormalities and uniparental disomy. Of these 12 abortuses, one revealed abnormal karyotype 46, XX,-4, t (4 ; 7) (q35 ; p13) which was derived from paternal balanced translocation 46, XY,t (4 ; 7) (q35 ; p13). No uniparental disomy was detected in each abortus.
3.自然流産胎児標本12例を収集し、両親の採血を行ない染色体異常および片親ダイソミ-の有無を検討した。自然流産胎児で12例中1例に染色体異常46, XX, -4, +der (4), t (4 : 7) (q35 : p13)を認め,これは父親の近衡型転座46, XY, t (4 : 7) (q35 : p13)に由来していた。一方,片親ダイソミ-は全例で認めなかった。