ABSTRACT
Drosophila buzzatii (Patterson & Wheeler), a typical cactophilic species of the repleta group, is registered for the first time emerging from Melon (Cucumis melo) in western Argentina. The analysis of inversion polymorphism and genetic diversity of mitochondrial cytochrome oxidase subunit I gene (mtCOI) provided additional evidence that corroborated the presence of a high proportion of D. buzzatii among the flies emerged from melon. This finding set the scenario for a broader range of possible hosts and host-related distribution and dispersion for this widespread species.
Subject(s)
Drosophila/genetics , Animals , Argentina , Genetic VariationABSTRACT
The genetic diagnosis of hemophilia is a basic method for preventing the birth of hemophilia patients and a basic way for realizing the aim of aristogenesis.Direct and indirect genetic diagnosis is a basic strategy for screening of hemophilia;while in indirect genetic diagnosis,more attention should be paid on the information given by the intro-genetic sites combined with the extra-genetic sites.
ABSTRACT
0bjective To make genetic and prenatal diagnosis of a female with Haemophilia A.Methotis The FⅧ:C.BT and VWF were detected to make phenotypic diagnosis.LD-PCR was adopted for screening the intron 22 inversion and PCR was adopted for the screening the intron 1 inversion.The coding and boundary sequences of FⅧgene were analyzed by PCR and DNA equencing.Eight combined polymorphie markers(Amelo,F8IVS13,CA22,DXS15,DXS9901,G6PD,DXS1073 and DXS1108)were applied for linkage analysis of the family by multiplex fluorescent PCR.The polymorphism of DXS52 (ST14)was analyzed by PCR and electrophoresis. Assessment of X inactivation was performed using an Hpa II-polymerase chain eaction (PCR)assay for the X-inked human androgen receptor gene(HUMARA). Results The female HA patient showed severe FW deficiency(FⅧ:C 2.1%)and other phenotypie tests were normal.Her family members showed normal in all tests.The female proposita was found to be a carrier of FW gene intron 22 inversion.But her family members as well as her etus showed negative results.Except this inversion,no other mutation Wag found then.The female inherited two X chromosomes from both her parents' and her fetus inherited the maternally derived X chromosome from the female proposita according to the linkage analysis.Furthermore.X-inactivation paRern of the female was unbalanced and her aternally derived X chromosome Wag inaetived mostly while the majority of her paternal derived one kept active.Conclusions The severe haemophilia A in the proposita resulted from the de novo Ⅷ intron 22 inversion which most probably arose in the paternal germ line.Associated with a skewing pattern of inactivation of the maternally derived X chromosome.Her etus is normal female.
