Breakpoint cloning and haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) mutation among northern Europeans

Article Abstract:

A study to understand the breakpoint cloning and haplotype analysis of the common inv(10)(p11.2q21.2) mutation among Northern Europeans is presented. All 20 apparently unrelated inv(10) families in the study had identical breakpoints, and detailed haplotype analysis showed that the inversions were identical by descent, thus, although inv(10)(p11.2q21.2) is considered a common variant, it has a single ancestral founder among northern Europeans.

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The variant inv (2) (p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity

Article Abstract:

An identification of four breakpoint combination by fluorescence in situ hybridization mapping of 40 cases of inv (2) (p11.2q13) of European origin was done. Result show majority arose independently in different ancestors and a minority either has been transmitted from a common founder or have different breakpoints at the molecular cytogenetic level.

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Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

Article Abstract:

A new mutation of the solute carrier SLC16A12 is found to lead to an autosomal dominant juvenile cataract with microcornea and renal glucosuria in humans. SLC16A12 is found to be extremely important for lens and kidney homeostasis and leads to the age-related cataract.

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