Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion.
To investigate the involvement of uniparental disomies (UPDs) in spontaneous abortion, the polymorphic patterns of microsatellites on each chromosome were analyzed in 164 cases of abortion. Eighty-three of the 164 cases had chromosomal abnormalities. In 79 of the remaining 81 cases with normal karyotypes, the microsatellite analysis revealed that biparental patterns were present in the informative microsatellites in all chromosomes. In one of the remaining two cases, however, the polymorphic patterns of chromosome 14 appeared to be both of paternal origin. The patterns of the distal of the long arm were homozygous, and those of the remaining region were heterozygous. That is, this fetus had paternal UPD 14, originating from meiosis I nondisjunction. In the other case, the polymorphic patterns of the distal one third of the long arm of chromosome 7 were uniparental (maternal) in origin whereas those of the remaining region of this chromosome were biparental. These findings thus suggested that this chromosome might have originated from chromatid exchange between the long arms of paternal and maternal chromosome 7 at the first mitotic division. Microsatellite analysis, however, produced no evidence of duplication or deletion of any segments. The findings also suggest the possibility that some UPDs may cause spontaneous abortion.
Tsukishiro
Sami
S
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya, Japan.
Li
Qing Ying
QY
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya, Japan.
Tanemura
Mitsuyo
M
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya, Japan.
Sugiura-Ogasawara
Mayumi
M
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya, Japan.
Suzumori
Kaoru
K
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya, Japan.
Sonta
Shin-Ichi
SI
Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya-cho, Kasugai, Aichi, 480-0392, Japan. ssonta@inst-hsc.jp.
D000022:Abortion, Spontaneous / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009630:Nondisjunction, Genetic / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D024182:Uniparental Disomy / Q000235:genetics*