• ARCHANA RAI

      Articles written in Journal of Genetics

    • Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating in creasing acceptance and clinical utility

      MEENAKSHI LALLAR PRIYANKA SRIVASTAVA ARCHANA RAI DEEPTI SAXENA KAUSIK MANDAL SHUBHA R. PHADKE

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      The aim of the present study was to evaluate the diagnostic yield of prenatal cytogeneticmicroarray (CMA) in structurally normal and abnormal foetuses and record the acceptance rate of CMA for prenatal diagnosis over a course of five year. In 128 structurally normal and abnormal foetuses, CMA was performed along with foetal karyotype, after exclusion of aneuploidy by quantitative fluorescence polymerase chain reaction. The microarray was able to detect the pathogenic variants in 5.5% cases; the diagnostic yield in structurally abnormal foetuses was 8.8% and 4.7% in foetuses with a high aneuploidy risk. Balanced and unbalanced translocations, and low level mosaicism were detected. Reanalysis of variants of uncertain significance identified pathogenic variant. The study shows higher diagnostic yield in structurally abnormal cases, the importance of foetal karyotype and reanalysis in microarray. The acceptance rate of prenatal CMA increased five-fold over a period of five year.

    • Homozygosity stretches around homozygous mutations in autosomal recessive disorders: patients from nonconsanguineous Indian families

      SHUBHA R. PHADKE PRIYANKA SRIVASTAVA PANKAJ SHARMA, ARCHANA RAI SUZENA MASIH

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      India has a large heterogeneous population with its unique social and genetic characteristics. Tradition of marriage betweenspecific caste groups have produced unique characteristics to the mutation spectrum of genetic disorders and may be a higher prevalence ofautosomal recessive (AR) disorders in some communities. We observed that in many nonconsanguineous families with rare autosomaldisorders, maternally and paternally inherited mutations are same, indicating common ancestor. In this era of genomic techniques, findinghomozygous regions have become easy. It was seen that the patients with AR disorders, who were homozygous for the disease causingpathogenic / likely pathogenic variations, have large stretches (0.6–188 Mb) of homozygosity around the causative sequence variations.SNP microarray data of patients from consanguineous and nonconsanguineous families also showed that even patients from nonconsanguineousfamilies had 3–49 Mb size regions of homozygosity. Long stretches of homozygosity around homozygous rare pathogenicvariants in nonconsanguineous families with rare AR disorders supports the notion that these couples may have a common ancestor formore than six generations and the system of marriages between same groups. Hence, using the strategy of homozygosity by descent even innonconsanguineous families can be fruitful in identifying the novel pathogenic variations and novel genes.

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