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S L Rhodes

Publications and source records attributed to S L Rhodes.

5 recordsLinked to original sources
PubMed1999

Double heterozygosity for the codon beta 39 C-to-T nonsense mutation and a triplicate alpha-globin gene locus can cause "dominantly" inherited beta-thalassemia intermedia.

BACKGROUND: A beta-thalassemia intermedia phenotype can be caused by multiple genotypes. METHODS: We studied a family where the mother was hematologically normal and both father and daughter had beta-thalassemia intermedia. RESULTS: Both affected individuals were heterozygous for a codon 39 CAG-to-TAG mutation. They also were heterozygous for a triplicate alpha-globin gene locus (alphaalphaalpha(anti 3.7)). CONCLUSIONS: This compound heterozygous condition of a beta39 C-to-T mutation and triplicate alpha-globin gene increases alpha:beta-globin chain imbalance and accounts for the presence of beta-thalassemia intermedia. The proband received both an abnormal beta-globin gene and a triplicate alpha-globin locus from her father. Although the phenotype seems to be dominantly inherited, because of independent segregation of the alpha- and beta-globin genes, it is more accurately an example of polygenic inheritance.

Codon↗
PubMed1995

Comparative intracytoplasmic sperm injection (ICSI) in human and domestic species.

The current clinical use of intracytoplasmic sperm injection (ICSI) for the alleviation of male factor infertility has prompted a re-investigation of sperm injection techniques in a number of animal species. This report examines sperm injection of in vitro matured oocytes in the major domestic species and compares the results with the human. Ovine, bovine and porcine oocytes can undergo fertilization and at least limited development without exogenous activation either prior to or subsequent to injection. Porcine is temperature sensitive during fertilization and the early stages of embryo development. The oocytes of all three domestic species, particularly ovine, have a tendency to activate after the injection procedure regardless of the presence or absence of sperm. The implications for early development studies and the practical use of direct sperm injection for domestic species are discussed.

Animals↗
PubMed1993

Fertility of superovulated ewes after intrauterine or oviducal insemination with low numbers of fresh or frozen-thawed spermatozoa.

Two experiments investigated the effects of number of spermatozoa inseminated and time and site of insemination of fresh and frozen-thawed semen on fertility in Merino ewes treated with intravaginal progestagen pessaries and a combination of pregnant mare serum gonadotrophin and follicle stimulating hormone. In Experiment 1, ewes were inseminated in the uterus or oviducts with totals of 10(4), 10(5), 10(6) or 10(7) fresh spermatozoa 44 or 68 h after pessary removal. Ova recovered 48 h later were classified as fertilized if they had cleaved. Proportion of fertile ewes (ewes with fertilized ova per ewes inseminated) and fertilization rate of ova (ova fertilized per ova recovered) were higher for inseminations 44 h (63% and 45%) than 68 h (38% and 19%) after pessary removal (P < 0.001). More ewes were fertile after oviducal (61%) than after intrauterine insemination (39%; P < 0.05), and with high (10(6) and 10(7)) than with low (10(4) and 10(5)) doses of spermatozoa for intrauterine (54% v. 24%; P < 0.05) but not for oviducal inseminations (63% v. 59%). Fertilization of ova was better after oviducal than after intrauterine inseminations (44% v. 22%; P < 0.001), and with high than with low doses of spermatozoa (45% v. 21%; P < 0.001). In Experiment 2, ewes were inseminated with 10(5), 5 x 10(5) or 10(6) total fresh or frozen-thawed spermatozoa in the uterus or oviducts, 44 h after pessary removal.(ABSTRACT TRUNCATED AT 250 WORDS)

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