日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
32 巻 , 3 号
Congenital Anomalies
選択された号の論文の6件中1~6を表示しています
  • 1992 年 32 巻 3 号 p. 167-178
    発行日: 1992年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
    ABSTRACT The male hypogonadism rat (bgdbgn) shows a characteristic male sterili- ty as a single autosomal recessive trait. Recently, the female homozygotes for bgn, as- sumed to be fertile, could be detected by a bgn-associated hypoplastic kidney (bpldbpk). The present study was to investigate a possible influence of the bgn gene on female reproduction. The bgn/bgn females showed a significant growth retardation as com- pared with the phenotypically normal ones (+/?; +/bgn or +/+). The litter size at birth and number of implantation traces were significantly less in the bgn/bgn than in the + /? females. The bgn/bgn females became anestrous and infertile much earlier than the +/? did. Histologically, there were a few corpora lutea, some atretic follicles at different stages of maturation and abundant abnormal interstitial cells with pyknotic or karyorexic nuclei in the ovaries of bgn/bgn females that have been infertile. The birth rate expressed by per cent litter size at birth against number of implantation traces was comparable between the bgn/bgn and the +/? female, suggesting that the small litter size of bgn/bgn female could not be due to the embryonic death in utero. Nevertheless, the number of the tuba1 ova at estrous was comparable in the bgn/bgn and +/? females. Therefore, it was suggested that the half of ova or embryos may be lost during the period from the fertilization to the implantation. Histological appearances of the neonatal ovary in the bgn/bgn seemed hypoplastic. The number of cells including oo- cytes and interstitial cells, enzymatically separated from neonatal ovary, was significantly less in the bgn/bgn than in the + /bgn. These results suggest that the gene product(s) coded by normal allele of bgn gene(s) involves normal gonadal development in both sexes; the defect may lead testicular dysmorphology in the male and reduced fertility in the female.
  • 1992 年 32 巻 3 号 p. 179-184
    発行日: 1992年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
    ABSTRACT The diagnosis of Duchenne muscular dystrophy (DMD) has been drastically improved by recent advances in DNA analysis. The Southern blot hybridization using the cDNA 8 probe and the restriction enzyme Hind I11 was conducted in a gravida and her family in blood samples. The diagnosis revealed partial gene deletions in both the gravida and the DMD-affected second child. The prenatal diagnosis was performed by studying the PCR (polymerase chain reaction) for target DNAs of exons 48 and 51 that correspond with cDNA 8 probe. In the affected child, the 506 bp band at exon 48 was detected but 388 bp at exon 51 was missing. On the other hand, both the 506 bp band at exon 48 and the 388 bp band at exon 51 were detected in the cultured am- niotic cells. Thus, the fetus was determined to be not affected.
  • 1992 年 32 巻 3 号 p. 214-264
    発行日: 1992年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
  • 1992 年 32 巻 3 号 p. 265-269
    発行日: 1992年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
  • 1992 年 32 巻 3 号 p. 270
    発行日: 1992年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
  • 1992 年 32 巻 3 号 p. 271-287
    発行日: 1992年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
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